unilab cataluge

Transcription

unilab cataluge

Introduction / 3
Quality / 4
Contacts / 5
Certifications
Unilabs International
Practical information / 6
1.
2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. Common tubes / materials
Shipping
Cancellation of tests
Confidentiality
Consent
Critical values
Infectious material
Invoicing
Parallel testing
Record retention
Referrals to another laboratory
Reflex testing
Request forms
Results
Turn-around times
Unlisted tests
General catalogue /16
1. How to read our catalogue
2. Sample information
a) Microbiology samples
b) Minimum Volume
c) Pre-analytics
d) Sample rejection
e) Submitting conditions
f) Temperature
g) Time sensitive samples
h) Storage
3. Test list
1
Table of contents
Table of contents
Table of contents
Table of contents
22
Allergies and food intolerances / 139
1. General information
3. Test list
1.
2. 3. 4. 5. 6. 7. 1. 2.
3.
4. 1. Sample information
2. Test list
1.
2.
3.
4.
Anatomic Pathology / 159
General information
Specimens
Request forms
The pathologist’s report
Turnaround times
Histology –by procedure
Cytopathology –by procedure
Human Genetics / 174
How to read our catalogue
General information
Sample information
Test list
Onco-Haematology / 381
FISH tests / 384
General
Centromere probes
Solid tumors
Haematological disorders
Index / 388
Founded in Switzerland in 1987, Unilabs provides reference laboratory testing
services to international markets, city councils, public and private hospitals, clinics,
laboratories, pharmaceutical companies and physicians throughout the world.
Unilabs offers the highest quality diagnostic services. Our reports are accurate
and fast, and due to the use of the most advanced technology and best-in-class
procedures, your samples are treated both efficiently and economically.
Our diagnostic services are backed by a strong team of 4,650 employees, among
which more than 300 medical doctors and scientists, who collaborate with leading
industry and academic institutions.
Our catalogue
The main objective of any catalogue of medical tests is to provide all necessary
information to select appropriate tests and to correctly perform all pre-analytical
steps, including sampling, storage and shipping.
Your samples are collected and processed quickly and efficiently. We provide
necessary containers, packing materials and request forms. In this catalogue,
specifically designed for customers who send us specimens from abroad, you will find
a list of the analyses we perform. Since this is not an exhaustive list, if you want to
order a test that is not in this catalogue, please contact your Unilabs representative,
or send a message to [email protected].
January 2013.
3
Introduction
Introduction
Quality
Quality
44
Our quality policy is built on the concepts of quality control and quality assurance.
Our quality programs meet and surpass the requirements of regulatory and
accreditation organizations, allowing us to deliver consistent, high-quality and
cost-effective service to our clients.
At Unilabs, one of our core values is the constant improvement of all procedures
and services that support the care of patients. As part of our Quality Control (QC)
system, daily controls are secured by the inclusion of control samples. Results are
also collectively evaluated on a regular (monthly) basis, to maintain control of assay
performance.
Furthermore, it is our policy to participate in proficiency testing programs (external
QC schemes) wherever possible and deemed appropriate.
All analytical results are reviewed and approved by qualified personnel.
Certifications
To serve our clients with the highest quality, our processes satisfy the strictest
standards in medical diagnostics. We are affiliated with multiple quality management
organizations and our operations are ISO certified.
ISO 9000 • ISO 9001 • ISO 9002 • ISO 14001 • ISO 15189 • ISO 17025 • ISO 22870
• BioQualité France • IPAC (Portuguese Accreditation Institute) • QUALAB Switzerland
• Clinical Pathology Accreditation (CPA) • Care Quality Commission (CQC) • Swiss testing
• Unilabs iPOCT was the first UK organisation to gain accreditation for point-of-care
testing.
Unilabs is also a Corporate Member of the International Federation of Clinical Chemistry and
Laboratory Medicine (IFCC), the leading scientific organization in diagnostics worldwide.
Unilabs International
With one of the most comprehensive portfolio of diagnostic services, Unilabs provides
reference lab testing services to international markets.
By leveraging international logistics and customer service capabilities existing within
the organization, our clients are able to benefit from the broad medical expertise
of the Unilabs network.
If you want to know more about our services, or have questions concerning analyses
or operations, please contact Unilabs International at [email protected]
5
Contacts
Contacts
1. Common tubes / materials
Unilabs provides the necessary tubes and packing materials if requested. Below
are listed the standard instructions for most common tubes. Please note that some
analyses require special treatment and that special instructions must be followed for
these.
During venipuncture, several samples are collected for laboratory tests. We
recommend drawing blood in the following order:
1)
2)
3)
4)
5)
6)
7)
Blood culture or No additive tubes
Coagulation tubes *
Serum tubes with/without
Heparin tubes with/without gel
EDTA tubes
Glucose
Other
*If only coagulation, draw 1 mL blood in a ”no additive tube” before the
coagulation tube is drawn to avoid contamination by tissue factors and to make sure
that the tube is filled completely.
Below, you will find a guide to the most frequently used tubes (non-exhaustive list)
and the standard procedure for their use. Individual test procedures are listed under
test remarks.
After preparing the tube(s) they should be stored in accordance with shipping
conditions until dispatch to Unilabs. If prolonged storage is necessary, please contact
Unilabs International for advice at: [email protected]
Serum tube, with or without gel.
o be used when serum is requested.
T
Medicaments: use tube without gel separator
• After drawing blood, gently invert the tube 5-10 times.
• Leave specimen for 30-60 minutes at room temperature (15–25 °C).
• Centrifuge at 1800-2000 g for 10 minutes.
• Transfer the serum into the transport tube (see transport tubes).
Practical information
Pratical information
66
Citrate tube
For coagulation tests.
• Please keep in mind the tube order.
• Citrate tubes need to be filled to the designated mark. Overfilling and underfilling will lead to incorrect dilution of the whole blood in the liquid citrate.
• For reasons of patient and general safety, plastic tubes are preferred. Appropriately treated (coated) glass tubes are acceptable. CLSI recommends 0.109 M (3.2%) citrate.
• We recommend centrifugation at 1500-1800 g within 30 minutes (max. 2 hours) after blood draw for 10 minutes at room temperature (15-25°C).
• For samples that are to be frozen, we recommend double centrifugation.
This plasma is called PPP2. This guarantees a platelet count remaining in the sample of < 10 G/l as required by international guidelines.
• Immediately after centrifugation, transfer the plasma into the transport tube and avoid white and red cells (see transport tubes).
EDTA tube
•
•
•
•
•
After drawing blood, gently invert the tube 8-10 times.
Whole blood: draw the tube on the day of shipping.
Blood smear slides: prepare two slides within 1 hour of blood sampling.
EDTA plasma: centrifuge at 1500-1800 g within 30 minutes for 10 minutes, transfer plasma into the transport tube and avoid white and red cells. We recommend double centrifugation for sending plasma.
Store the tube in accordance with shipping conditions until dispatch to Unilabs.
PAX gene RNA tube
For onco-haematology RNA analyses (such as quantitative BRC-ABL), please use
the PAX gene tube.
• Directly draw blood with PAX gene tube. Never transfer blood drawn with/in another method/tube into a PAX gene tube.
• Store the tube refrigerated and send refrigerated.
7
8
Heparin tube
Please note that there are different kinds of heparin tubes used for different analyses.
• The tube can be sent either as whole blood or plasma depending on the analysis:
- Whole blood: draw sample on the day of shipping.
- Heparin plasma: centrifuge at 2000 g for 10 minutes. Transfer plasma into
the transport tube and avoid white and red cells. We recommend double centrifugation for sending plasma.
• Store the tube in accordance with shipping conditions until dispatch to Unilabs.
Trace elements tube
Tubes for trace elements are specially cleaned tubes suitable for these tests; do not use
other tubes for trace elements. Please be aware of the different tube types and the
requested material.
• Whole blood: draw sample on the day of shipping.
• Plasma/serum: centrifuge at 2000 g for 10 minutes.
• Transfer plasma/serum into another trace element tube (a standard transport tube might increase the result) and avoid white and red cells or centrifuge twice for the same time at the same speed.
Feces transport tube
24h collection
If a 24h collection is required, then weight an empty collection container; after
finalizing the 24h collection, weight the container again and note the 24h weight on
request form (24h collection including container weight – empty container weight).
Please add requested amount of well-mixed feces to the transport tube and make sure
to tighten the cap carefully.
Urine tube
There are a number of different collection and transport tubes for urine samples.
Please review requirements for the requested test.
Different urine collections:
• Spot urine
• 24hr urine
- Collected on HCl
- Collected without HCl
• Protected from light
Spot urine
Collect the urine, mix well and transfer the requested volume to a urine secure
transport tube.
24h collection
• Empty bladder in the morning and discard the urine, noting the time.
• Collect all urine from that time on. Keep the urine refrigerated between urinations.
• The urine collection must continue until the next morning at the same time.
• Note the volume of 24h collection on the request form.
• Store the tube in accordance with shipping conditions until dispatch to Unilabs.
24h collection on HCl
• If collection should be done on HCl, the pH should be measured as control, for most tests pH<4 is acceptable. Please note the pH on the request form.
• If pH is above the limit, a new collection period is required. For the second collection period, a new collection container with more HCl must be prepared.
• Send only the requested urine volume to Unilabs.
Swabs
There are a number of different swabs for different purposes and tests; please select one
that is suitable for the requested test. Send the swab to Unilabs.
9
10
Transport and storage tubes
Transfix tubes®
Transfix® Sample Storage Tubes have a 2 mL capacity, screw top tubes prefilled with
0.2 mL of TransFix®. They are suitable for the addition of 1 mL of anti-coagulated
whole blood.
Please use the Transfix® storage tube when flow cytometry is requested.
Add 1 mL of EDTA blood or bone marrow (even heparinated) in a Transfix® tube,
and store/send it refrigerated (4°C). The cells are stable for up to 10 days.
Transport tubes with screw cap (transparent)
These tubes should be used for transport of serum or plasma.
For tests with no special requirements, please use this tube.
Please only use transport tubes with a screw cap and make sure you tighten the cap
carefully.
Transport tubes with screw cap (black)
If the test requested requires the sample to be protected from light use this transport
tube or the transparent tube covered with aluminum foil. When transferring the
serum/plasma to this tube, please use a pipette to ensure adequate volume.
Please only use transport tubes with a screw cap and make sure you tighten the cap
carefully.
Special instructions
Preparation of isolated leucocytes:
Leukocyte extraction by cellular lysis
Material: Whole blood in lithium heparin (10 mL).
Reagents:
-EDTA 0.2M (keep refrigerated for 6 months as a maximum)
- Lysis buffer:
- NH4Cl
- KHCO3
- EDTA 0.2M
Mix:
- NH4Cl 8.3 g 155 mM
- KHCO3
1 g
10 mM
- EDTA 0.2M
0.5 mL
• Dilute all reagents in a final volume of 1 liter.
• Keep pH between 7.1 and 7.3.
• Keep refrigerated for 6 months as a maximum.
- Physiological saline: NaCl 0.9% - Dissolve 0.9 g NaCl in 100 mL of bidistilled water. Keep
at room temperature for 6 months as a maximum.
Method
The procedure to isolate leukocyte is the following:
1. Centrifuge the blood sample at 1500 rpm during 10 min.
2. Extract the ring that appears between the plasma and the erythrocytes (approximately 2 mL) and transfer it into a new tube.
3. Add 10-13 mL of lysis buffer to that extract.
4. Mix it by gentle inversion of the tube.
5. Keep on ice for 15 min.
6. Centrifuge at 1200 rpm for 10 min.
7. Discard the supernatant and keep the pellet.
8. If the pellet is red, repeat steps 3 to 7 by adding again 10-13 mL of lysis buffer.
9. Add 2 mL of lysis buffer and mix slowly with a pipette.
10. Keep on ice for 5 min.
11. Add 15 mL of physiological saline (to wash the pellet).
12. Centrifuge at 1200 rpm for 10 min.
13. Discard the supernatant.
14. Freeze the clean pellet.
Preservation: keep leukocytes in a -80°C freezer.
Reference to other specialties, i.e. Human Genetics, Anatomic Pathology
For instructions on samples for Human Genetics and Anatomic Pathology tests, please
refer to the according sections in this catalogue.
11
2.Shipping
12
Infectious material
• If the material is known to contain a category A infection (IATA regulations), please use special containers and follow special instructions. Unilabs must be contacted before shipment to approve receipt.
• For all other samples, please follow the packing instruction below.
Dry-ice or cooled transport
All tubes should be placed in an absorbent tissue sleeping bag.
•
•
•
•
The absorbent bag with tubes should be placed in the special transport bag and the bag then sealed.
If microbiology samples are included, please place only one sample per bag.
Serum/plasma and whole blood: more absorbent sleeping bag tissue can be placed in each bag.
Large volume samples (i.e. urine): please place one sample per bag.
If the sample tube/container does not fit in the absorbent tissue sleeping bag, then just place the absorbent tissue in the plastic bag.
Seal the bag and place the request forms or shipping manifest in the pocket (backside of bag).
Cooled shipment
•
•
•
If samples are for cooled transport, the box should be marked: UN3373
Place the cooling block in the box, but not in direct contact with the samples.
If shipping from outside EU, a special form needs to be filled out. Unilabs will provide a template for the form at request.
Frozen shipment
If samples are for cooled transport, the box should be marked UN1845 + orange label
“Keep frozen”
Add dry-ice, place the plastic bags with samples, and fill the box with dry-ice.
If shipping from outside EU, a special form needs to be filled out. Unilabs will provide
a template for the form at request.
Ambient shipment
•
•
•
•
Place the samples in the container (container has an absorbent tissue in the bottom); the cellular rubber has 12 holes (i.e. for 12 tubes).
Close the lid and place the container in a shipping box designed for this container.
You can send more boxes using the same airway bill.
If you are sending many samples, you can also use the large box for cooled samples, without the cooling blocks.
13
3.Cancellation of tests
14
Cancellations received prior to test setup will be honored at no charge. Requests
received following test setup cannot be honored. A report will be issued automatically
and charged appropriately.
4. Confidentiality
Unilabs is committed to guaranteeing the confidentiality of patient information. The
following policies have been adopted:
- We do not reply to patient inquiries or results by phone.
- We do not submit reports to other than agreed person at the
ordering physician facility.
5.Consent
Submission of tests in this catalogue constitutes guarantee to Unilabs by ordering
physician that:
a) Prescribing physician has obtained “informed consent” of the patient for each test prescribed; and
b) Prescribing physician has obtained the patient’s authorization allowing Unilabs to report results of each prescribed test directly to the physician.
6.Critical values
Critical value definition: A critical value is defined by Unilabs as a value that represents a pathophysiological state at such variance with normal or expected values as to be life-threatening unless something is done promptly and for which corrective action can be taken. Abnormal results (outside of established reference ranges) are not considered critical values.
Action taken when values exceed the critical values limits: in addition to the normal results report, Unilabs’ staff contacts the contact person provided by our client. In case no telephone contact can be made, we send an e-mail marked as URGENT and with reading confirmation request. We will continue to call our contact until we are sure that the critical value has been reported.
7.Infectious material
-
-
-
All samples are considered to be potentially infectious.
If material is known to contain a category A infection (IATA regulations), special containers and instructions must be used, and Unilabs must be contacted before shipment to approve receipt.
For all other samples, please follow the regular packing instructions.
8. Invoicing
Unilabs invoices monthly based on the performed analyses.
9.Parallel testing
For more information on parallel testing, please contact our services at:
[email protected]
10.Record retention
Unilabs retains all test requests for a period of 5 years. A copy of the original report can
be recovered including reference value ranges, comments, and notes for 1 year.
11.Referrals to another laboratory
If Unilabs cannot produce the test within the Unilabs group, we will forward the test to
one of our selected laboratories.
12.Reflex testing
Unilabs identifies reflex tests when medically appropriate. In some cases, Unilabs
suggests components of reflex tests individually as well as grouped.
13.Request forms
Please fill in the request form with patient name, date of birth and gender; if date of
birth is not known, then please fill in the age of the patient.
Tick the appropriate test in the form or write the requested test in the “Other tests”
field; please fill in clinical information if relevant for the requested test.
Fill in urine volume, patient height and weight (if relevant for the test). Label the tube(s)
and write down (on the label) which sample material is contained in the tube(s).
Forward the original request form to Unilabs; keep a copy for your own files.
14. Results
Results are reported when ready. Result reporting will be done in accordance with our
customers request (i.e. fax, e-mail, electronically).
15.Turnaround times
Specified turnaround-times in this catalogue are the maximum estimations from the
moment samples are registered by Unilabs. These times do not comprehend weekends,
bank holidays, and the addition of supplementary tests.
16.Unlisted tests
This paper catalogue does not list all available test offerings. Tests and procedures are
developed continuously and therefore some tests are not listed in this catalogue. If you
do not find a specific test, please contact us at: [email protected], or consult our web
catalogue at: https://ucs.unilabs.com
15
General catalogue
1.How to read our catalogue
General catalogue
16
16
1
Test name
4
TAT: in days/weeks
6
Units
2
Tube
5
Method
7
Remarks
3
Requirement:
sample type and volume
1
Example:
17-Cetosteroids (urine 24h)
2 Tube:
Urine
3 Requirement:
20 mL 24h urine+HCL
4 TAT:
7 Remarks:
5 Method: GC-FIC
6 Units: µmol/24h
3 weeks
Collected on HCl. Indicate the volume of 24h. For every 24h
urine we add urinary creatinine to control for the time period.
2.Sample information
a) Microbiology samples should be sent in their own plastic bag
b) Minimum volume: amount of specimen required to perform a test once. Submitting
the minimum specimen volume makes it impossible to repeat the test or perform
confirmatory testing. In some cases, a minimum specimen volume can result in an
insufficient quantity for testing, therefore requiring a second sample to be collected.
c) Pre-analytics: Unless special requirements are specified for the requested test, the
standard handling for the tube should be followed.
Before sampling, arrange a total set of materials and ensure that tubes are properly
and uniquely labeled for the patient, remembering also to label the transport tubes.
Make sure that Unilabs can identify the material in the transport tube.
See standard instruction for each tube; specific tubes will be described as special
requirements for each test.
A tourniquet should not be used. However, if a good blood flow cannot be obtained
or difficulties in drawing blood are foreseen, a tourniquet could be used for a
maximum of 2 minutes. If applied, release tourniquet prior to blood collection.
The tubes are vacuum tubes designed to draw the required amount of blood. The
tube must not be removed from the needle as long as blood is still being drawn into
the tube. Be aware that haemolysis can occur if the tube is removed earlier, which
may interfere with laboratory test results.
To avoid contamination between tubes, we recommend drawing blood in
the following order:
1.Blood culture or No additive tubes.
2.Coagulation tubes*.
3.Serum tubes with/without.
4.Heparin tubes with/without gel.
5.EDTA tubes.
6.Glucose.
7.Other.
*If only coagulation, draw 1 mL blood in a ”no additive tube” before the coagulation
tube is drawn to avoid contamination by tissue factors.
d) Sample rejection: all tests have specific testing requirements. In order to avoid
sample rejection or increased turnaround times, please read carefully the sample
requirements field for each test. You will be alerted of rejected (or problem) samples
upon receipt.
e) Submitting conditions: please review the following conditions
before submitting a sample:
•Appropriate identification of patient/specimen
•Patient information requested
• Full 24hours for timed urine collection
• Lack of hemolysis/lipemia
•Type of sample (plasma, serum, whole blood, etc.)
•Sample volume
• Sample container (metal-free, separation gel, appropriate preservative, etc.)
• Make sure that all caps are tightened properly
•Transport medium
•Temperature (ambient, frozen, refrigerated)
f) Temperature
•Frozen: transport and storage temperature below -18°C
•Refrigerated: transport and storage temperature between +2°C and +8°C
•Ambient (between 15°C and 25°C)
g) Time-sensitive samples: please contact Unilabs ([email protected]) before sending
a time-sensitive sample. It is important to write “URGENT” both on the request form
and in a visible manner on the bag.
h) Storage: Please store samples in accordance with shipping conditions until pick-up. If
prolonged storage is necessary, please contact Unilabs International for advice:
[email protected]
17
General catalogue
General catalogue
General catalogue
3.Test list
General catalogue
18
18
1,25-di-OH-Vitamin D
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
3 mL Serum
3 mL EDTA plasma, 3 mL heparin plasma
4 days
Method: EIA
3 mL of frozen serum.
Units: pmol/L
1.4-Methylimidazol acetic acid
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
7 days
Method: HPLC
Put 5-10 mL acetic acid in the 24h urine container before collection.
Indicate the volume of 24h. For every 24h urine we add urinary
creatinine to control for the time period.
11-desoxycorticosterone
Tube:
Requirement:
Alternative:
TAT:
Serum
2 mL Serum
EDTA plasma, heparin plasma
3 weeks
Method: RIA
Units: pmol/L
11-desoxycortisol
Tube:
Requirement:
TAT:
Serum
2 mL Serum
14 days
Method: RIA
Units: nmol/L
Tube:
Requirement:
TAT:
Remarks:
Urine
20 mL 24h urine+HCL
3 weeks
Method: GC-FIC
Units: µmol/24h
Collected on HCl. Indicate the volume of 24h. For every 24h urine
we add urinary creatinine to control for the time period.
17-OH-corticosteroids (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
50 mL 24h urine
7 days
Method: Spectrophotometry
Units: µmol/24h
17-OH-Pregnenolone
Tube:
Requirement:
TAT:
Serum
2 mL Serum
10 days
Method: RIA
Units: µg/L
General catalogue
17-OH-progesterone
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: RIA
Units: nmol/L
18-OH-Corticosterone
Tube:
Requirement:
TAT:
Remarks:
Serum
2 mL Serum
10 days
Method: RIA
Freeze within 4 hours, send frozen.
21-Desoxycortisol
Tube:
Requirement:
TAT:
Remarks:
Serum
3 mL Serum
2 weeks
Method: RIA
There is a circadian rhythm (maximum concentration in the
morning) with an amplitude large enough to have a significant
influence on clinical.
25-OH Vitamin D
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
6 days
Method: ELISA
Dosage of vitamins D2 and D3.
Units: nmol/L
3-Alpha-Androstandiol Glucuronide
Tube:
Requirement:
TAT:
Serum
2 mL Serum
10 days
Method: RIA
5-aminolevulinic acid (urine)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
8 days
Method: Liquid Chromatography
Maintain the urine at +4°C and protected from light. For every 24h
urine we add urinary creatinine to control for the time period.
5-HIAA (5-hydroxyindolacetate)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine+HCL
7 days
Method: HPLC
Units: µmol/24h
Diet: avoid bananas, tomatoes, grapefruit, nuts, avocados,
pineapples, plums and chocolate 48 hours before collection and
collect on HCl indicate the volume of 24h. For every 24h urine we
add urinary creatinine to control for the time period.
General catalogue
19
General catalogue
Acetycholinesterase
General catalogue
20
20
Tube:
Requirement:
TAT:
Remarks:
Acid steatocrit
Tube:
Requirement:
TAT:
Remarks:
Acrosin
Tube:
Requirement:
TAT:
ACTH
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Sterile
3 mL Amniotic Fluid
7 days
Method: PAGE
Do not centrifuge. Add complete clinical information
about pregnancy.
Stool
100 g Stool
4 days
Units: %
The analysis is performed on stool (24h collection) and can not be
performed if the stools are solid. (pediatry 30 g).
Sterile
Sperm
7 days
Units: %
Aprotinin
1 mL Aprotinin EDTA plasma, frozen
1 mL EDTA plasma, frozen
5 days
Method: Immunoassay
Units: pmol/L
Centrifuge at +4°C within 30 min, decant and freeze
plasma immediately. In case of a stimulation test with CRF,
please contact the lab.
Acute Hepatitis (HAV, HBV, HCV)
Tube:
Requirement:
TAT:
Serum
3 mL Serum
3 days
Method: EIA
Acute Hepatitis A (IgG, IgM) (Anti-HAV)
Tube:
Requirement:
TAT:
Serum
3 mL Serum
3 days
Acute Hepatitis B
Tube:
Requirement:
TAT:
Remarks:
Method: EIA
Serum
3 mL Serum
3 days
Method: EIA
Include HBsAg, anti-HBc Ab, anti-HBc IgM Ab.
General catalogue
Tube:
Requirement:
TAT:
Remarks:
Adam TS 13
Tube:
Requirement:
TAT:
Remarks:
Serum
3 mL Serum
2 weeks
Send frozen
Method: MS-MS
Units: µmol/L
Citrate (1+9)
3 mL Citrate plasma, frozen
15 days
Adenosine diaminase (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
1 mL Fluid
4 days
Method: Photometry
Pleural fluid. Must be sent frozen.
Units: U/L
Adenosine deaminase (Serum)
Tube:
Requirement:
TAT:
Adenovirus
Tube:
Requirement:
TAT:
Serum
1 mL, Serum, frozen
4 days
Method: MS-MS
Units: U/L
Serum
1 mL Serum
4 days
Units: Titer
Method: Complement fixation
Adenovirus (PCR)
Tube:
Requirement:
Alternative:
TAT:
Remarks:
PCR
See requirement
Sterile
4 days
Method: PCR
Eye smears, stool, CSF. Warning: This is an analysis of molecular
biology, not of serology. Do not send serum.
AFP (neonatal screening)
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
3 days
Method: Immunoassay
Add clinical information on the form.
Units: pmol/L
General catalogue
Acylcarnitine
21
General catalogue
AFP (puncture fluid)
General catalogue
22
22
Tube:
Requirement:
TAT:
Remarks:
Plain
0.5 mL Fluid
3 days
Method: Immunoassay
Units: kU/L
This analysis is intended to aspirate-, synovial-, articular-, asciticor pleural fluids.
AFP (tumor marker)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: Immunoassay
Units: kU/L
Ag. Aspergillus (Galactomannane)
Tube:
Requirement:
TAT:
ALAT (GPT)
Tube:
Requirement:
Alternative:
TAT:
Albumin
Tube:
Requirement:
TAT:
Albumin (CSF)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Serum
0.2 mL Serum
DTA plasma, heparin plasma
3 days
Units: U/L
Serum
0.2 mL Serum
4 days
Method: Immunoturbidimetry
Units: g/L
Plain
0.5 mL CSF
3 days
Units: g/L
Albumin (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Method: Immunoturbidimetry Units: g/L
This test is conducted in an aspirate-, synovial-, articular-,
ascitic- or pleural fluid.
Albumin (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
6 days
Method: Immunoturbidimetry Units: mg/24h
General catalogue
Albumin (urine)
Tube:
Requirement:
TAT:
Aldolase
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Aldosterone
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL Spot urine
6 days
Serum
0.5 mL Serum
4 days
Send frozen
Units: mg/L
Units: U/L
Serum
0.5 mL Serum
8 days
Method: RIA
Units: pmol/L
Indicate whether the sample was taken after rest or after walking.
Aldosterone (urine)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine+HCL
7 days
Method: RIA
Units: nmol/24h
Alkaline Phosphatase
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
3 days
Units: U/L
Alpha Mannosidase
Tube:
Requirement:
TAT:
Aldolase
Serum
2 mL Serum
13days
Tube:
Requirement:
Alternative:
Heparin
10 mL Heparin whole blood
Isolated Leucocytes, frozen
TAT:
5 days
Remarks:
Units: nmol/h/mg
protein
Very short stability, please prepare isolated Leucocytes
for frozen shipping.
Method: Flourimetry
General catalogue
23
General catalogue
Alpha-1-antitrypsin
General catalogue
24
24
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
4 days
Units: g/L
Alpha-1-antitrypsin, genotype
Tube:
Requirement:
EDTA
2.5 mL EDTA whole blood
TAT:
4 days
Method: PCR
Alpha-2 macroglobulin
Tube:
Requirement:
Alternative:
TAT:
Serum
1 mL Serum
7 days
Method: Nephelometry
Units: g/L
Alpha-fetoprotein (tumor marker)
TAT:
Remarks:
See: AFP
Alpha-Galactosidase
Tube:
Requirement:
TAT:
Remarks:
Heparin
21 days
Draw sample on day of shipment. Do not send at end of week.
Alpha-Galactosidase, serum
Tube:
Serum
Alpha-HBDH (hydroxybutyric dehydrogenase)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
9 days
Alpha-Interferone abs
Tube:
Requirement:
TAT:
Serum
2 mL Serum
13 days
Alpha-tocopherol
Remarks:
Alprazolam
Tube:
Requirement:
TAT:
See: Vitamin E (alpha-tocopherol).
Serum without gel
0.2 mL Serum
5 days
Method: HPLC-MS
Units: nmol/L
General catalogue
Tube:
Requirement:
TAT:
Remarks:
Trace element
0.5 mL Whole blood, trace elements
11 days
Method: ICP-MS
Do not freeze. Do not open tube.
Units: µg/L
Aluminium (urine)
Tube:
Requirement:
TAT:
Amantadin
Spot urine
5 mL Spot urine
10 days
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Method: LC-MS-MS
Serum
1 mL Serum
8 days
Method: FPIA
Amikacin
Tube:
Requirement:
TAT:
Units: µg/L
Units: mg/L
Amino acids (blood)
Tube:
Requirement:
Heparin
5 mL heparin plasma
TAT:
Remarks:
7 days
Method: HPLC
Centrifuge at +4°C within 30 min, decant and freeze plasma
immediately.
Amino acids (urine 24h)
Tube:
Requirement:
Urine
20 mL 24h urine
TAT:
Remarks:
7 days
Method: HPLC
Store at +4°C between urinations. Quick deliver 5-10 mL of urine
rapidly frozen. Indicate the volume of 24h. For every 24h urine we
Aminoantipyrine
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Amiodarone
Tube:
Requirement:
TAT:
Method: LC-MS
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
Units: µmol/L
General catalogue
Aluminium
25
General catalogue
Amisulpride
General catalogue
26
26
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
5 days
Method: HPLC-MS
Units: nmol/L
Amitriptylin + Nor.Tube:
Requirement:
TAT:
Ammonium
Tube:
Requirement:
TAT:
Remarks:
Amoebiasis Ig
Tube:
Requirement:
TAT:
Amoxicillin
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
EDTA
0.5 mL EDTA plasma
3 days
Units: µmol/L
Refrigerate immediately and keep the sample at 4°C, centrifuge
quickly , decant plasma and freeze.
Serum
1 mL Serum
6 days
Method: IF
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
10 days
Method: HPLC
Amphetamines
Tube:
Requirement:
TAT:
Units: µmol/L
Serum
1 mL Serum
4 days
Method: EMIT
Units: Titer
Units: µg/L
Amphetamines (+ ecstasy)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
6 days
Method: EMIT
Detect ecstasy, but not anorectics such as ephedrine
and phentermine.
Amphotericin B
Tube:
Requirement:
Serum
2 mL Serum
TAT:
13 days
Method: HPLC
General catalogue
Tube:
Requirement:
TAT:
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Units: µg/L
Amylase (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Amylase (total)
Tube:
Requirement:
Alternative:
TAT:
Plain
0.1 mL Fluid
8 days
Units: U/L
Serum
0.5 mL Serum
0.5 mL heparin plasma
3 days
Units: U/L
Amylase, total (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24hs urine
6 days
Units: U/L
Amyloid serum A
Tube:
Requirement:
TAT:
Serum
2 mL Serum
20 days
ANCA
See: Anti-neutrophilic cytoplasmic Ab
Remarks:
Units: mg/L
Androstanediol glucuronide
Tube:
Requirement:
TAT:
Androsterone
Tube:
Requirement:
TAT:
Remarks:
Serum
3 mL Serum
18 days
Method: RIA
Units: nmol/L
Urine
20 mL 24h urine
14 days
Method: GC
Units: µmol/L
General catalogue
Amprenavir
27
General catalogue
Angioconvertase
General catalogue
28
28
Tube:
Requirement:
TAT:
Angiotensin II
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
5 days
Units: U/L
EDTA
3 weeks
Method: RIA
Units: ng/L
immediately.
Anguillulosis IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: ELISA
Units: Index
Anti 21-hydroxylase
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
9 days
Units: U/mL
Anti-acetylcholin receptor Ab
Tube:
Requirement:
Alternative:
TAT:
Anti-actine
Tube:
Requirement:
TAT:
EDTA
1 mL EDTA plasma
1 mL Serum
2 weeks
Method: RIA
Units: nmol/L
Serum
0.5 mL Serum
6 days
Method: EIA
Units: Index
Anti-Amphiphysine Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: Immunodot
Anti-Beta 2-glycoproteins I Ab
Tube:
Requirement:
Alternative:
Citrate (1+9)
1 mL Citrate plasma
1 mL Serum
TAT:
Remarks:
4 days
Method: Immunodot
Belongs to the anti-phospholipid Ab.
General catalogue
Anti-calcium channels Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
1 month
Method: RIA
Anti-Candida (Mannane) Ig
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
8 days
Method: EIA
Units: UA/mL
It is advisable to request together "Anti-Candida (Mannan) Ig"
(code 7636) and "Candida (Mannan) Ag (EIA)" (code 7634).
Anti-cardiolipin Ab (IgG, IgM)
Tube:
Requirement:
Alternative:
Citrate (1+9)
1 mL Citrate plasma
1 mL Serum
TAT:
4 days
Anti-CCP Ab
Tube:
Requirement:
TAT:
Method: ELISA
Serum
0.5 mL Serum
5 days
Method: EIA
Units: MOC
Anti-centromere Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
5 days
Method: IF
Units: Titer
Belongs to the anti-nucleoprotein autoantibodies.
Anti-CNS antibodies, screening
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
5 days
Method: Immunoblot
Includes anti-Hu, anti-Yo, anti-Ri, anti-amphisyne, 1anti-CV2,
anti MA1, anti-MA2.
Anti-collagen type 2 Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
10 days
Method: RIA
Includes bovine types I, II and human type I.
Units: UA/mL
Anti-colon epithelium Ab
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
7 days
Units: Titer
General catalogue
29
General catalogue
Anti-Cornea Abs
General catalogue
30
30
Tube:
Requirement:
TAT:
Serum
1 mL Serum
13 days
Anti-cortico adrenal Ab (IF)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Method: IF
Units: Titer
Anti-cow milk Ab
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
7 days
Anti-CV2 Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: Allergen testing
Method: Immunodot
Anti-cytoskeleton Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
6 days
Method: IF
Units: Titer
Includes anti-tubulin, anti-vimentin, anti-actin Ab
Antidiuretic hormone (ADH)
Tube:
Requirement:
TAT:
Remarks:
EDTA
10 days
Method: RIA
Units: pmol/L
immediately. NOTE: 2x2.5 mL frozen EDTA plasma.
Anti-DNA polymerase Abs
Tube:
Requirement:
TAT:
Serum
1 mL Serum
13 days
Anti-dsDNA Ab (FIA)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: EIA/IF
Units: IU/mL
Method: EIA
Units: Titer
Anti-endomysium Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
General catalogue
Anti-epidermal antibodies
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
5 days
Method: IF
Includes Anti-basal membrane Ab, anti-intercellular substance Ab.
Anti-exocrine pancreas
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
8 days
Method: IF
Units: Titer
Anti-GAD II (65kD) Ab
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
1 mL Serum
1 mL CSF
10 days
To be sent frozen.
Units: kU/L
Anti-Ganglioside GQ1b IgG, IgM Ab
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
8 days
Method: ELISA
Units: %
Anti-Ganglioside IgG, IgM Ab (screening)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
8 days
Method: Dot
Includes antibodies directed against the following antigens: GM1,
GM2, GM3, GM4, GD1a, GD1b, GD2, GD3, GT1a, GT1b, GQ1b.
Anti-gastric parietal cell AB
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
8 days
Method: IF
Includes anti-parietal cell Ab and anti-intrinsic factor Ab.
Anti-gliadin IgA Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: ELISA
Units: MOC
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
7 days
Method: ELISA
Units: MOC
Tube:
Requirement:
TAT:
Serum
1 mL Serum
5 days
Units: U
Anti-gliadin IgG Ab
Anti-glomerular basal membrane Ab
Method: IF
General catalogue
31
General catalogue
Anti-haemophilus Ab
General catalogue
32
32
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
8 days
Anti-hepatic cytosol Ab
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
4 days
Method: IF
Anti-histones Ab
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
3 days
Method: ELISA
Anti-HTLV1 / HTLV2
Tube:
Requirement:
TAT:
Anti-Hu Ab
Serum
1 mL Serum
10 days
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: EIA
Units: Index
Method: Immunodot
Anti-human insulin Ab
Tube:
Requirement:
Alternative:
Serum
1 mL Serum
1 mL EDTA plasma
TAT:
10 days
Method: RIA
Anti-hyaluronidase
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Anti-IA2 Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: EIA
Anti-intrinsic factor Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Remarks:
Belongs to Antigastric Abs
Method: EIA
Units: kU/L
General catalogue
Anti-islets of Langerhans Ab (IF)
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
8 days
Anti-Jo 1 Ab
Tube:
Requirement:
TAT:
Remarks:
Method: IF
Serum
0.5 mL Serum
5 days
Method: ELISA
Units: U/mL
Anti-lactoferrin Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Anti-LKM Ab
Tube:
Requirement:
TAT:
Anti-Ma1 Ab
Serum
0.5 mL Serum
4 days
Method: IF
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Anti-Ma2 Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Anti-MAG IgM
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
2 weeks
Anti-mitochondria Ab
Tube:
Requirement:
TAT:
Remarks:
Method: EIA
Units: Titer
Method: Immunodot
Method: Immunodot
Method: IF
Serum
1 mL Serum
4 days
Method: IF
Units: Titer
Only anti-M2 Ab are specific of primitive biliary cirrhosis, therefore
it will be added unless specified "Anti-mitochondria Ab ONLY".
General catalogue
33
General catalogue
Anti-mitochondria subtype M2
General catalogue
34
34
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
4 days
Method: Dot
Following will be added Anti-OGBC Ab + Anti-BCOADC Ab + AntiPDC Ab + Anti-NPDC Ab if Anti-M2 Ab are positive. As Anti-M2 are
not the only Ab specific against primitive biliary cirrhosis. These are
new ones which help diagnosis.
Antimony
Tube:
Requirement:
TAT:
Anti-MuSK Ab
Serum
2 mL Serum
15 days
Tube:
Requirement:
Serum
1 mL Serum
TAT:
1 month
Anti-myelin Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Method: EIA
Method: IF
Anti-myeloperoxidase Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Method: ELISA
Units: kIU/L
Antimüllerian hormon (AMH)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: ELISA
Units: pmol/L
Method: IF
Units: Titer
Anti-myocard Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Anti-native DNA Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
4 days
Method: EIA/IF
Units: Titer
Too many false positives tests with anti-DNA. Anti-nucleosomes Ab
are more specific and will be added, unless "Anti-DNA ONLY"
is specified.
General catalogue
Anti-neutrophilic cytoplasmic Ab (ANCA)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
5 days
Method: IF
Anti-PR3 and anti-MPO are more specific than ANCA (IF) to screen
for vasculities, and will be added to request.If ANCA is positive Antiglomerular basement membrane Ab will be added.
Anti-nuclear Ab (ANA)
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
4 days
Method: IF
Units: Titer
If titer result is <=80, we will add a confirmatory test to increase
sensibility. If titer result >160, Unilabs will screen for Antinucleoprotein Ab, unless request specifically indicates "ANA ONLY".
Anti-nucleoprotein Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
4 days
Method: FIA
Includes anti-SSA, anti-SSB, anti-SM, anti-RNP, anti-U1-RNP, antiScl70, anti-Jo1, anti-CENP B.
Anti-nucleosome Ab
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
7 days
Method: ELISA
Units: U
Anti-ovarian Ab
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
8 days
Method: IF
Units: Titer
Anti-parietal cells Ab
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
7 days
Method: IF
Units: Titer
Anti-platelet Ab
Tube:
Requirement:
Alternative:
EDTA
30 mL EDTA whole blood
See requirement
TAT:
Remarks:
7 days
Method: ELISA
PLT: >150: 15mL /PLT:100-149 20 mL/ PLT:50-99 30 mL/ PLT:20-49 50
mL/ PLT: <50 not possible.
General catalogue
35
General catalogue
Anti-pneumococcal (vaccine)
General catalogue
36
36
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Anti-potassium channels Ab
Tube:
Requirement:
TAT:
Serum
3 mL Serum
7 days
Units: pmol/L
Anti-proteinase 3 Ab
Tube:
Requirement:
TAT:
Anti-rabies Ab
Tube:
Requirement:
TAT:
Anti-Ri Ab
Serum
1 mL Serum
8 days
Method: ELISA
Units: kIU/L
Serum
1 mL Serum
10 days
Method: Neutralization
Units: IU/mL
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: Immunodot
Anti-ribosomal Ab
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
5 days
Method: Immunodot
Anti-RNP 68 kD Ab
Tube:
Requirement:
TAT:
Anti-Scl 70 Ab
Tube:
Requirement:
TAT:
Remarks:
Anti-SLA Ab
Serum
0.5 mL Serum
4 days
Method: GC
Units: kU/l
Serum
1 mL Serum
5 days
Method: ELISA
Units: U/mL
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
5 days
Method: EIA
General catalogue
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
5 days
Method: ELISA
Units: U/mL
Anti-smooth muscle Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
4 days
Method: IF
Units: Titer
Anti-actin Ab are specific to type I autoimmune hepatitis and will
be added, unless request indicate "Anti-smooth muscle Ab ONLY".
Anti-sperm Ab, IgA
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
7 days
Units: %
Anti-sperm Ab, IgG
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
7 days
Units: %
Anti-SSA/Ro Ab
Tube:
Requirement:
TAT:
Remarks:
Anti-SSB/La Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
5 days
Method: ELISA
Units: U/mL
Serum
1 mL Serum
5 days
Method: ELISA
Units: U/mL
Anti-staphylolysin
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
5 days
Method: Agglutination
Units: U/mL
Anti-streptodornase B
Tube:
Requirement:
TAT:
Serum
0.8 mL Serum
4 days
Units: U/mL
General catalogue
Anti-Sm Ab
37
General catalogue
Anti-striated muscle Ab (IF)
General catalogue
38
38
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
8 days
Method: IF
Units: Titer
Anti-Synthetases Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
5 days
Method: ELISA
Includes anti-Mi2, anti-Ku, anti-Jo1, anti-PL7, anti-PL12, anti-SRP.
Anti-T3 Ab
Tube:
Requirement:
TAT:
Remarks:
Anti-T4 Ab
Tube:
Requirement:
TAT:
Serum
2 mL Serum
13 days
Method: RIA
Join the results of thyroid tests.
Serum
1 mL Serum
1 month
Units: %
Units: %
Anti-thrombin III
Tube:
Requirement:
TAT:
Remarks:
Citrate (1+9)
0.7 mL Citrate plasma, frozen
4 days
Method: Coagulation
Units: %
Diet: avoid contamination by tissue factors and anticoagulants.
Moderately tighten the withers and reject the first ml after
insertion of the needle. Do not collect after a heparin tube. If
hemolysis reject the sample.
Anti-thyroglobulin Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
6 days
Method: EIA
Belongs to the anti-thyroid autoantibodies.
Units: kIU/L
Anti-thyroid Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Anti-thyroperoxidase (TPO) Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
6 days
Method: EIA
Belongs to the anti-thyroid autoantibodies.
Units: kIU/L
General catalogue
Anti-titin (connectin MGT30) Ab
Tube:
Requirement:
TAT:
Serum
2 mL Serum
7 days
Anti-transglutaminase Ab, IgA
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
10 days
Method: EIA
Units: MOC
2 to 3% patients with coeliac disease have a deficit of IgA, thus
giving negative Anti-tTG IgA. Total IgA is performed once when
the first screening is done.
Anti-transglutaminase Ab, IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: EIA
Units: MOC
Anti-transglutaminase IgG + IgA
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: EIA
Anti-TSH receptor Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum, frozen
8 days
Method: RIA
Send frozen.
Units: Index
Anti-Xa activity
Tube:
Requirement:
TAT:
Remarks:
Anti-Yo Ab
Citrate (1+9)
3 days
Method: Coagulation
Units: U/mL
Indicate the nature and dosage of heparin. Centrifuge within 2
hours, freeze plasma.
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: Immunodot
Apolipoprotein A-1
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
3 days
Units: g/L
General catalogue
39
General catalogue
Apolipoprotein A-1, B
General catalogue
40
40
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
3 days
Units: g/L
Apolipoprotein B
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
3 days
Units: g/L
Apolipoprotein E
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: EID
Units: mg/L
Apolipoprotein E, genotyping
Tube:
Requirement:
EDTA
TAT:
5 days
Arbovirus
Tube:
Requirement:
TAT:
Arsenic (urine)
Tube:
Requirement:
TAT:
Arylsulfatase A
Method: PCR
Serum
0.5 mL Serum
7 days
Units: Titer
Spot urine
10 mL Spot urine
10 days
Method: SAA
Units: µmol/L
Tube:
Requirement:
Alternative:
Heparin
TAT:
7 days
Remarks:
Arylsulfatase B
Units: nmol/h/mg
protein
Very short stability; please prepare isolated Leucocytes
Tube:
Requirement:
Alternative:
Heparin
TAT:
7 days
Remarks:
Units: nmol/h/mg
protein
General catalogue
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
3 days
Ascorbate
See: Vitamin C (ascorbate).
Remarks:
Units: U/L
ASLO anti-streptolysin-O
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
4 days
Units: kU/L
Aspergillus (6 species)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
10 days
Includes A. fumigatus, A, nidulans, A. flavus, A, niger, A. terreus,
Allescheria boydii.
Atazanavir
Tube:
Requirement:
TAT:
Barbiturates
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Units: µg/L
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
6 days
Method: EMIT
If the screening test is positive, it is possible to perform, on the
same sample, specific tests for confirmation.
Bartonella henselae (IgG)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Method: IF
Units: Titer
Bartonella henselae (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: IF
Bartonella henselae (IgM)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Method: IF
Units: Titer
General catalogue
ASAT (GOT)
41
General catalogue
Bartonella henselae + Afipia felis
General catalogue
42
42
Tube:
Requirement:
PCR
Biopsy
TAT:
Remarks:
6 days
Method: PCR
Combined search of Bartonella henselae and Afipia felis
(only one test is charged).
BCR ABL P 190 Gene Rearrangement (FISH)
Tube:
Requirement:
Benzene
Tube:
Requirement:
TAT:
Remarks:
Heparin
EDTA
3 mL Whole blood
15 days
Special tube (available on request).
Benzodiazepines
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
6 days
Method: EMIT
If the screening test is positive, it is possible to perform, on the
same sample, specific tests for confirmation.
Benzodiazepines (serum)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
3 days
Remarks:
creatinine to control for the time period
Method: Liquid Chromatography Units: µg/L
Beta 2-glycoprotein IgG
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Citrate (1+9)
1 mL Citrate plasma
1 mL Serum
4 days
Method: ELISA
Units: U/mL
Beta 2-glycoprotein IgM
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Citrate (1+9)
1 mL Serum
4 days
Method: ELISA
Units: U/mL
General catalogue
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
6 days
Method: HPLC
Keep protected from light. Send frozen.
Units: µmol/L
Beta-2 microglobulin
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
0.5 mL EDTA plasma, 0.5 mL heparin plasma
3 days
Method: Immunoassay
Units: mg/L
Beta-2 microglobulin (Urine)
Tube:
Requirement:
TAT:
Spot urine
10 mL Spot urine
6 days
Method: Immunoassay
Units: µg/L
Beta-CrossLaps (CTx)
Tube:
Requirement:
Alternative:
EDTA
1 mL EDTA plasma
Serum
TAT:
Remarks:
6 days
This test is for monitoring of osteoporosis therapy - therefore, one
measuring must be made before beginning with a bisphosphonate
therapy, the follow-up measuring after 2 - 3 months under therapy.
Effective therapy lowers the result by at least 40%. Send frozen.
Beta-galactosidase
Tube:
Requirement:
Alternative:
Heparin
10 mL Heparin Whole blood
TAT:
1 month
Remarks:
Beta-hCG (free)
Tube:
Requirement:
TAT:
Remarks:
Units: nmol/h/mg
prot
Serum
1 mL Serum
8 days
Send frozen.
Method: Flourimetry
Method: EIA
Units: µg/L
Beta-trace protein
Tube:
Requirement:
Alternative:
TAT:
Sterile
2 mL CSF
Nasal fluid, ear fluid
10 days
Units: mg/L
General catalogue
Beta Carotene
43
General catalogue
Bicarbonates
General catalogue
44
44
Tube:
Requirement:
TAT:
Remarks:
Biliary acids
Tube:
Requirement:
TAT:
Remarks:
Heparin
0.5 mL Heparin plasma
3 days
Units: mmol/L
Using a heparin microtube. The analysis is also possible with serum:
in this case do not centrifuge the tube.
Serum
1 mL Serum
6 days
Send frozen.
Units: µmol/L
Bilirubin, conjugated
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Bilirubin, total
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
0.2 mL Serum
3 days
Units: µmol/L
Total bilirubin will be added automatically. Keep
protected from light.
Serum
0.2 mL Serum
3 days
Keep protected from light.
Units: U/L
Bilirubin, total (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Biotin
Remarks:
Biotinidase
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Units: µmol/L
This analysis is intended to aspirate-, synovial-, articular-, asciticor pleural fluids. Keep protected from light.
See: Vitamin H (Biotin).
Serum
2 mL Serum
1 month
Send frozen.
Units: nmol/mL/min
General catalogue
Tube:
Requirement:
TAT:
Bismuth
Tube:
Requirement:
TAT:
Bismuth (urine)
Tube:
Requirement:
TAT:
Blood Typing
Serum without gel
0.2 mL Serum
5 days
Method: HPLC-MS
Units: nmol/L
Serum
1 mL Serum
6 days
Method: AAS
Units: µg/L
Urine
1 mL Spot urine
10 days
Method: AAS
Units: µg/L
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Gel-test
Send a tube exclusively for analysis of Immunohaematology,
including: name, date of birth of the patient and the date and
time of sampling.
Blood typing ABO, Rhesus typing, irregular allo Ab
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Gel-test
time of sampling.
Blood typing newborn ABO, Rhesus typins, direct Coombs
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Gel-test
time of sampling.
BNP (Brain Natriuretic Peptide)
Tube:
Requirement:
TAT:
Remarks:
EDTA
1 mL fEDTA plasma, frozen
3 days
Method: ICT
Freeze plasma and send frozen
Units: ng/L
General catalogue
Biperidene
45
General catalogue
Bone alkaline phosphatase
General catalogue
46
46
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
5 days
Method: ELISA
Units: µg/L
Bordetella pertussis (IgG, IgA)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Bordetella pertussis IgA
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: EIA
Units: IU/mL
Method: EIA
Units: IU/mL
Bordetella pertussis IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Bordetella pertussis, immunity (IgG)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: EIA
Units: IU/mL
Borrelia sp. IgG anti-VLSE
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
8 days
Method: ELISA
Units: RE/mL
Only as a confirmatory test of a positive test. Useful test for
monitoring the treatment.
Borrelia sp. Immunoblot IgG
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
9 days
Method: Immunoblot
Only as a confirmatory test of a positive screening test.
Borrelia sp. Immunoblot IgM
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
9 days
Method: Immunoblot
Only as a confirmatory test of a positive screening.
General catalogue
Tube:
Requirement:
TAT:
Bromide
Serum
0.2 mL Serum
5 days
Method: HPLC
Tube:
Requirement:
Serum
2 mL Serum
TAT:
2 weeks
Brucella
Tube:
Requirement:
Serum
0.2 mL Serum
TAT:
13 days
Bupropion
Tube:
Requirement:
TAT:
Remarks:
Units: µmol/L
Method: Direct potentiometry
Serum
0.2 mL Serum
5 days
Method: HPLC-MS
Keep sample at +4°C.
Units: nmol/L
C1-esterase inhibitor, activity and ponderal
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
Remarks:
6 days
Send frozen.
CA 125
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Method: Immunoassay
Units: kU/L
CA 125 (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
CA 15-3
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Method: Immunoassay
Units: kU/L
This test is conducted in a aspirate-, synovial-, articular-, ascitic- or
pleural fluid. The result is an indication of the production of tumor
markers by cells in contact with the biological fluid. For the test in
serum, refer to test CA 125 (4217).
Serum
0.5 mL Serum
4 days
Method: Immunoassay
Send frozen.
Units: kU/L
General catalogue
Bromazepam
47
General catalogue
CA 15-3 (puncture fluid)
General catalogue
48
48
Tube:
Requirement:
TAT:
Remarks:
CA 19-9
Tube:
Requirement:
TAT:
Plain
0.1 mL Fluid
6 days
Method: Immunoassay
Units: kU/L
This test is conducted in a aspirate-, synovial-, articular-, ascitic- or
serum, refer to test CA 15-3 (4215).
Serum
0.5 mL Serum
4 days
Method: Immunoassay
Units: kU/L
Tube:
Requirement:
TAT:
Remarks:
CA 72-4
Tube:
Requirement:
TAT:
Cadmium
Tube:
Requirement:
TAT:
Plain
0.1 mL Fluid
6 days
Method: Immunoassay
Units: kU/L
This test is conducted in an aspirate-, synovial-, articular-, ascitic- or
serum, refer to test CA 19-9 (4211).
Serum
0.5 mL Serum
6 days
Method: RIA
Units: kU/L
Trace element
11 days
Method: AAS
Units: µg/L
Cadmium (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
10 days
Method: AAS
Units: µg/24h
Cadmium (urine)
Tube:
Requirement:
TAT:
Spot urine
10 mL Spot urine
13 days
Method: AAS
Units: µg/L
General catalogue
Tube:
Requirement:
TAT:
Calcitonin
Tube:
Requirement:
TAT:
Remarks:
Serum
2 mL Serum
7 days
Method: Liquid Chromatography Units: µmol/L
Serum
1 mL Serum
7 days
Method: RIA
Units: ng/L
Allow to clot, centrifuge at +4°C, decant the serum and freeze
immediately. Send frozen.
Calcitonin ; subst. c.
Tube:
Requirement:
Serum
1 mL Serum, frozen
TAT:
1 week
Remarks:
Method: Chemiluminescent
Immunometric assay
To freeze within the hour. Send frozen.
Units: pmol/l
Calcium (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Calcium (urine)
Tube:
Requirement:
TAT:
Calcium, total
Tube:
Requirement:
TAT:
Calprotectin
Urine
10 mL 24h urine
6 days
Method: Colorimetry
Units: mmol/24h
Spot urine
10 mL Spot urine
6 days
Units: mmol/L
Serum
0.5 mL Serum
7 days
Units: mmol/L
Tube:
Requirement:
Stool
Stool
TAT:
7 days
Units: µg/g
Campylobacter Ab
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
8 days
Includes C. fœtus and C. jejuni.
Units: Titer
General catalogue
Caffeine
49
General catalogue
Campylobacter fœtus Ab
General catalogue
50
50
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Units: Titer
Units: Titer
Campylobacter jejuni Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Candida (Mannane) Ag (EIA)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
8 days
Method: EIA
Units: pg/mL
It is advisable to request together "Anti-Candida (Mannan) Ig"
(code 7636) and "Candida (Mannan) Ag (EIA)" (code 7634).
Candida albicans (HAI)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Cannabis (THC)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
6 days
Method: EMIT
Cannabis (THC), quantitatiove in serum
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Method: GC-MS
Carbamazepine
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: EIA
Units: µmol/L
Carboxyhemoglobin
Tube:
Requirement:
TAT:
Heparin
7 days
Units: %
General catalogue
Tube:
Requirement:
TAT:
Remarks:
Caspofungin
Tube:
Requirement:
TAT:
Heparin tube
2 mL Heparin plasma, frozen
2 weeks
Method: MS-MS
Units: µmol/L
Centrifuge within 1 hour, separate the plasma and freeze
immediately. Send frozen. Include brief medical history. Ongoing
treatment should be indicated.
Serum
1 mL Serum
5 days
Method: HPLC-MS
Units: mg/L
Catecholamines
Tube:
Requirement:
Urine
10 mL 24h urine+HCL
TAT:
Remarks:
9 days
Method: HPLC
CDT (Carbohydrate deficient transferrin)
Tube:
Requirement:
TAT:
CEA
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Serum
0.5 mL Serum
4 days
Method: Immunoassay
Units: %
Units: µg/L
CEA (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Ceruloplasmin
Tube:
Requirement:
Alternative:
TAT:
Plain
0.1 mL Fluid
6 days
Method: Immunoassay
Units: µg/L
This analysis is intended to aspirate-, synovial-, articular-,
ascitic- or pleural fluids.
Serum
0.5 mL Serum
4 days
CH50 (haemolytic complement)
Tube:
Requirement:
TAT:
Remarks:
Units: g/L
Serum
1mL Serum, frozen
7 days
Method: Immunotubidimetry
Units: U/mL
Centrifuge and freeze serum within 2 hours, send frozen.
General catalogue
Carnitine
51
General catalogue
Child food allergy screening
General catalogue
52
52
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
3 days
Method: EIA
Includes F1, F2, F3, F4, F13, F14.
Units: kU/L
Chlamydia pneumoniae (IgG IgA)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: IF
Chlamydia pneumoniae (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
7 days
Method: PCR
Sputum, BAL, bronchial aspiration.
Chlamydia psittaci (IgG IgA)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: IF
Chlamydia trachomatis (IgG IgA)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: IF
Chlamydia trachomatis (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
7 days
Method: PCR
Urogenital or conjunctival swabs, urine, synovial fluid. Warning:
This is an analysis of molecular biology, not of serology. Do not
send serum.
Chlordiazepoxide
Tube:
Requirement:
TAT:
Chloride
Serum
0.2 mL Serum
5 days
Method: HPLC
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
4 days
Method: Ion-selective
electrode (ISE)
Units: µmol/L
Units: mmol/L
General catalogue
Tube:
Requirement:
Plain
0.5 mL CSF
TAT:
3 days
electrode (ISE)
Units: mmol/L
Chloride (puncture fluid)
Tube:
Requirement:
Plain
0.1 mL Fluid
TAT:
7 days
Remarks:
Units: mmol/L
electrode (ISE)
Chloride (urine 24h)
Tube:
Requirement:
Urine
10 mL 24h urine
TAT:
6 days
Remarks:
Method: Indirect
Units: mmol/24h
potentiometry
Chloride (urine)
Tube:
Requirement:
Alternative:
Spot urine
10 mL Spot urine
10 mL 24h urine
TAT:
6 days
Chloroquine
Tube:
Requirement:
Serum
2 mL Serum
TAT:
13 days
electrode (ISE)
Units: mmol/L
Cholesterol (LDL)
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
3 days
Cholesterol (poncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Units: mmol/L
Plain
0.1 mL Fluid
6 days
Units: mmol/L
General catalogue
Chloride (CSF)
53
General catalogue
Cholesterol (total)
General catalogue
54
54
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Units: mmol/L
Cholesterol VLDL (calculated)
Tube:
Requirement:
TAT:
Cholinesterase
Tube:
Requirement:
Alternative:
TAT:
Serum
1 mL Serum
3 days
Serum
0.5 mL Serum
0.5 mL heparin plasma
4 days
Units: mmol/L
Units: kU/L
Chromium (blood)
Tube:
Requirement:
TAT:
Trace element
11 days
Method: ICP-MS
Units: µg/L
Chromogranin A
Tube:
Requirement:
TAT:
Remarks:
Ciclosporin
Tube:
Requirement:
TAT:
Remarks:
Serum without gel
1 mL Serum
10 days
Method: RIA
Units: µg/L
Do not use gel separation. Allow to clot, centrifuge at +4°C,
decant the serum and freeze immediately.
EDTA
3 days
Method: EMIT
Units: µg/L
Diet: avoid drinking grapefruit juice delays the absorption
of cyclosporine.
Circulating immune complexes
Tube:
Requirement:
TAT:
Citalopram
Tube:
Requirement:
TAT:
Serum
3 mL Serum
15 days
Method: ELISA
Serum without gel
0.2 mL Serum
5 days
Method: LC-MS-MS
Units: mg/Eq/mL
Units: nmol/L
General catalogue
Citrate (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
CK, total
Tube:
Requirement:
TAT:
Remarks:
CK-MB mass
Tube:
Requirement:
TAT:
Clindamycin
Urine
5 mL 24h urine, frozen
10 days
Method: Spectrometry
Units: mg/24h
Store at +4°C between urinations. Quick deliver 5-10 mL of urine
rapidly frozen. Indicate the volume of 24h. Send 5 mL frozen urine.
Serum
0.5 mL Serum
4 days
Freeze within 4 hours and send frozen.
Serum
0.5 mL Serum
4 days
Units: U/L
Units: µg/L
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Units: mg/L
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
Units: µmol/L
Remarks:
Clobazam
Tube:
Requirement:
TAT:
Method: Microbiological
method
Clom.+ Desmethylclomipramine
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
8 days
Method: HPLC
Units: nmol/L
Clomethiazol (urine)
Tube:
Requirement:
Spot urine
5 mL Spot urine
TAT:
10 days
Clonazepam
Tube:
Requirement:
TAT:
Remarks:
Method: HPLC
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
Units: nmol/L
General catalogue
55
General catalogue
Clorazepate
General catalogue
56
56
Tube:
Requirement:
Serum without gel
0.2 mL Serum
TAT:
Remarks:
7 days
Method: HPLC-MS
Measured are the active metabolites Nordazepam and Oxazepam.
Clostridium difficile (toxins A+B)
Tube:
Requirement:
Stool
Stool
TAT:
6 days
Method: EIA
Clotting Factor II
Tube:
Requirement:
TAT:
Remarks:
Citrate (1+9)
6 days
Method: ELISA
See Clotting Factor general remark.
Units: %
Clotting Factor IX
Tube:
Requirement:
TAT:
Citrate (1+9)
6 days
Method: Functional
coagulation
Units: %
Clotting Factor V
Tube:
Requirement:
TAT:
Remarks:
Citrate (1+9)
6 days
Method: Functional
coagulation
Clotting Factor VII
Tube:
Requirement:
Citrate (1+9)
TAT:
6 days
Units: %
Clotting Factor VIII
Tube:
Requirement:
TAT:
Citrate (1+9)
6 days
Method: Functional
coagulation
Units: %
Clotting Factor X
Tube:
Requirement:
TAT:
Citrate (1+9)
6 days
Method: Functional
coagulation
Units: %
General catalogue
Clotting Factor XI
Tube:
Requirement:
TAT:
Citrate (1+9)
6 days
Method: Functional
coagulation
Units: %
Clotting Factor XII
Tube:
Requirement:
TAT:
Citrate (1+9)
6 days
Method: Functional
coagulation
Units: %
Clotting Factor XIII
Tube:
Requirement:
TAT:
Citrate (1+9)
6 days
Method: Functional
coagulation
Units: %
Clozapine + Nor.
Tube:
Requirement:
TAT:
Cobalt
Tube:
Requirement:
TAT:
Cobalt (urine)
Tube:
Requirement:
TAT:
Cocaine (urine)
Serum without gel
0.2 mL Serum
5 days
Method: LC-MS-MS
Units: µmol/L
Trace element
11 days
Method: ICP-MS
Units: µg/L
Spot urine
10 mL Spot urine
13 days
Method: ICP-MS
Units: µg/L
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
6 days
Coccidioides immitis
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
8 days
Method: EMIT
General catalogue
57
General catalogue
Coenzyme Q10
General catalogue
58
58
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
1 mL Serum
1 mL heparin plasma
7 days
Method: LC
Units: µg/L
Separate and decant within 4 hours. Send frozen.
Cold Agglutinins
Tube:
Requirement:
Serum
5 mL Serum
TAT:
Remarks:
6 days
Allow to clot for 2 hours at +37°C, centrifuge, and if there is no
separation gel, decant the serum.
Complement C1 esterase inhibitor, functional
Tube:
Requirement:
Citrate (1+9)
TAT:
10 days
Units: %
Complement C1 inhibitor, mass
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
6 days
Units: mg/L
Complement C1q
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Units: mg/L
Method: IDR
Units: mg/L
Complement C2
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Complement C3
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
4 days
Complement C3 C4
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
6 days
Units: g/L
General catalogue
Complement C4
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
6 days
Units: g/L
Complement C4d
Tube:
Requirement:
TAT:
EDTA
7 days
Method: IDR
Units: mg/L
Complement C5
Tube:
Requirement:
TAT:
Coombs, direct
Serum
1 mL Serum
10 days
Method: IDR
Units: mg/L
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Gel-test
including: name, date of birth of the patient and the date and time
of sampling.
Copper (serum/plasma)
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
0.5 mL plasma from trace element tube (Royal blue top)
5 days
Method: AAS
Units: µmol/L
Copper (urine 24)
Tube:
Requirement:
TAT:
Remarks:
Cortisol
Tube:
Requirement:
Alternative:
TAT:
Urine
10 mL 24h urine
7 days
Method: AAS
Units: µg/24h
Serum
0.2 mL Serum
0.2 mL EDTA plasma or heparin plasma
6 days
Method: Immunoassay
Units: nmol/L
Cotinin (nicotine)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
5 days
Method: EMIT
Units: µg/L
General catalogue
59
General catalogue
Cotinin (urine)
General catalogue
60
60
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
7 days
Method: EMIT
Coxsachies B (B2-B6)
Tube:
Requirement:
TAT:
C-peptide
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Creatine
Tube:
Requirement:
TAT:
Creatinine
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Units: Titer
Serum
1 mL Serum
1 mL EDTA plasma, frozen, 1 mL Heparin plasma, frozen
4 days
Method: Immunoassay
Units: pmol/L
Patient must be fasting 12 h before sampling. Allowed to
clot, centrifuge at +4°C, decant the serum/plasma and freeze
immediately.Send frozen.
Serum
2 mL Serum
10 days
Units: µmol/L
Serum
0.5 mL Serum
3 days
Units: µmol/L
Creatinine (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Units: µmol/L
Creatinine (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
6 days
Units: mmol/24h
General catalogue
Creatinine (U-spot)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
3 days
Indicate the volume of 24h.
Units: mmol/L
Creatinine clearance (Cockroft-Gault formula)
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
3 days
Units: mL/min
Indicate the patient's weight. The Cockroft-Gault can underestimate
the renal function of patients over 65 years old.
Creatinine clearance (MDRD)
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
3 days
Remarks:
Units: mL/
min/1.73m2
Creatinine clearance (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
See requirements
6 days
Units: mL/min
Indicate the volume of 24h. Take a serum tube (light orange) for
determination of serum creatinine. For every 24h urine we add
urinary creatinine to control for the time period. 0.5 mL Serum
+ 10 mL 24h urine.
Creatinine clearance, corrected (urine 24h)
Tube:
Requirement:
See requirement
See requirement
TAT:
6 days
Remarks:
Units: mL/
(alkaline picrate)
min/1.73m2
Indicate the weight and height of the patient. Indicate the volume
of 24h. For every 24h urine we add urinary creatinine to control for
the time period. Material required:0.5 mL Serum + 10 mL 24h urine.
Crosslaps (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
7 days
Method: EIA
Second fasting morning urine, divide into two tubes 5 mL each,
freeze immediately.
General catalogue
61
General catalogue
General catalogue
62
62
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
3 days
Remarks:
Units: mL/
min/1.73m2
Tube:
Requirement:
TAT:
Remarks:
Urine
See requirements
6 days
Units: mL/min
Indicate the volume of 24h. Take a serum tube (light orange) for
determination of serum creatinine. For every 24h urine we add
urinary creatinine to control for the time period. 0.5 mL Serum
+ 10 mL 24h urine.
Tube:
Requirement:
See requirement
See requirement
TAT:
6 days
Remarks:
Units: mL/
(alcaline picrate)
min/1.73m2
Indicate the weight and height of the patient. Indicate the volume
the time period. Material required:0.5 mL Serum + 10 mL 24h urine.
Crosslaps (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
7 days
Method: EIA
Second fasting morning urine, devide into two tubes 5 mL each,
freeze immediately.
CRP
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Cryofibrinogen
Serum
0.5 mL Serum
4 days
Method: Immunoturbidimetry Units: mg/L
of cyclosporine.
Tube:
Requirement:
Alternative:
EDTA
10 mL EDTA plasma
10 mL Serum
TAT:
Remarks:
5 days
Centrifuge at 37°C. 6252
General catalogue
Cryoglobulin screening
Tube:
Requirement:
Serum
10 mL Serum
TAT:
Remarks:
5 days
Allow to clot at 37°C, centrifuge, decant and refrigerate serum at
+4°C. If positive: typification of cryoprecipitate.
Cryptococcus (serum Ag)
Tube:
Requirement:
Alternative:
Serum
3 mL Serum
CSF
TAT:
7 days
Crystals (puncture fluid)
Tube:
Requirement:
Plain
0.1 mL Fluid
TAT:
Remarks:
6 days
Cyanide
Tube:
Requirement:
Heparin
TAT:
2 weeks
Cyfra 21-1
Tube:
Requirement:
TAT:
Cystatin C
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
6 days
Method: RIA
Units: µg/L
Serum
0.5 mL Serum
4 days
Units: mg/L
Cysticercosis IgG
Tube:
Requirement:
TAT:
Cystine
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
10 days
Method: ELISA
Units: Index
Heparin
8 days
Method: HPLC
Units: µmol/L
immediately.
General catalogue
63
General catalogue
Cytogenetic testing
General catalogue
64
64
Tube:
Requirement:
See requirement
See requirement
TAT:
Remarks:
12 days
Warning: Draw on day of shipment. Inform us and send
immediately. Prenatal chromosome analysis: amniotic fluid, chorion
villi, fetal blood and percutaneously drawn umbilical blood.
Postnatal chromosome analysis : blood or from a skin biopsy.
For information about cytogenetic testing, please contact us and
use request forms provided for this purpose.
Cytomegalovirus (PCR)
Tube:
Requirement:
Alternative:
TAT:
Remarks:
PCR
See requirement
Sterile, EDTA
6 days
Method: PCR
Units: copies/mL
Urine, throat smear, biopsy, blood. Warning: This is an analysis of
molecular biology, not of serology. Do not send serum.
Cytomegalovirus IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: EIA
Units: UA/mL
Cytomegalovirus IgG Avidity
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: ELFA
Units: %
Cytomegalovirus IgG, IgM
Tube:
Requirement:
Serum
2 mL Serum
TAT:
6 days
Method: EIA
Cytomegalovirus IgM
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: EIA
Units: Index
Cytomegalovirus, presence of immunity (IgG)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: EIA
Units: UA/mL
General catalogue
Tube:
Requirement:
TAT:
D-Dimers
Tube:
Requirement:
TAT:
Remarks:
EDTA
1 mL EDTA plasma
10 days
Method: GC-FIC
Units: µg/L
Citrate (1+9)
3 days
Method: Immunoassay
Units: µg/L
Up to 5 simple coagulation tests (PT, aPTT, TT, Fibrinogen, D-Dimer).
Approximately 2.5 mL of plasma is generally sufficient. Centrifuge
within 2 hours, freeze plasma within 6 hours after sampling.
Dehydroepiandrosterone Sulfate (DHEA-S)
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
0.2 mL Serum
0.2 mL EDTA plasma
8 days
Method: RIA
Units: µmol/L
of cyclosporine.
Delta-4-Androstenedione
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
8 days
Method: RIA
Units: nmol/L
Dengue IgG + IgM
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Method: EIA
Density (puncture fluid)
Tube:
Requirement:
Plain
0.1 mL Fluid
TAT:
Remarks:
6 days
Deoxypyridinoline (urine)
Tube:
Requirement:
TAT:
Remarks:
Spot urine
10 mL Spot urine
7 days
Method: HPLC
Second fasting morning urine.
Units: nmol/L
General catalogue
Darunavir
65
General catalogue
Desipramine
General catalogue
66
66
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
Units: µmol/L
Diaminooxidase
Tube:
Requirement:
TAT:
Remarks:
Diazepam
Tube:
Requirement:
TAT:
Remarks:
Dibenzepine
Tube:
Requirement:
TAT:
Serum
1 mL Serum
8 days
Method: LIA
Units: µg/L
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
Units: µmol/L
Also includes metabolites nordazepam, Oxazepam and Temazepam.
Serum
1 mL Serum
7 days
Method: HPLC
Units: nmol/L
Dibucaine number
Tube:
Requirement:
TAT:
Diclofenac
Heparin
2 mL Heparin plasma
4 days
Method: Inhibition
Tube:
Requirement:
Serum
0.2 mL Serum
TAT:
5 days
Digitoxin
Tube:
Requirement:
TAT:
Remarks:
Digoxin
Tube:
Requirement:
TAT:
Remarks:
Units: %
Units: µmol/L
Serum without gel
0.2 mL Serum
4 days
Method: RIA
Units: nmol/L
Take the sample 8 to 24hours after taking the drug.
Serum without gel
0.2 mL Serum
4 days
Method: EIA
Units: nmol/L
Take the sample 8 to 24hours after taking the drug.
General catalogue
Dihydrotestosterone
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Diphteria
Serum
2.5 mL Serum
10 days
Method: RIA
Units: ug/L
Centrifuge within 1 hour, separate the serum and freeze
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Distomatosis fasciolosis
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: ELISA
Doxepine + Nor.Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
5 days
Method: HPLC
Units: nmol/L
Drug screening (Urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
6 days
Includes amphetamines, ecstasy, barbiturates, benzodiazepines,
cannabis, cocaine, methadone, opiates.
Duloxetin
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
5 days
Method: HPLC-MS
Units: nmol/L
Echinococcus, screening (multilocularis, granulosus)
Tube:
Requirement:
TAT:
Remarks:
Efavirenz
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: ELISA
Units: ug/L
Individual tests (E. multilocularis or E. granulosus) on request.
EDTA
1 mL EDTA plasma
10 days
Method: GC-FIC
Units: µg/L
General catalogue
67
General catalogue
Electrophoresis of alkaline phosphatase
General catalogue
68
68
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: Electrophoresis
Units: %
Units: %
Electrophoresis of CK
Tube:
Requirement:
TAT:
Serum
1 mL Serum
5 days
Electrophoresis of hemoglobin
Tube:
Requirement:
EDTA
TAT:
Remarks:
5 days
Please indicate if we should perform additional analysis (molecular
genetic) for complete diagnosis, if the result indicate it.
Electrophoresis of LDH
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Elements (CSF)
Tube:
Requirement:
Plain
0.5 mL CSF
TAT:
3 days
Elements (puncture fluid)
Tube:
Requirement:
EDTA
0.1 mL Fluid
TAT:
Remarks:
6 days
Aspirate, synovial, articular, ascitic or pleural.
Units: µg/L
Enterovirus (Echo/Coxsackie)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Units: Titer
Enterovirus (PCR)
Tube:
Requirement:
Alternative:
PCR
1 mL CSF
Stool
TAT:
Remarks:
7 days
Method: PCR
Warning: This is an analysis of molecular biology, not of serology.
Do not send serum.
General catalogue
Eosiniphil cationic protein (ECP)
Tube:
Requirement:
TAT:
EPO, measured
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
7 days
Method: ImmunoCAP
Units: µg/L
See requirement
See requirement
5 days
Method: EMIT
Units: µg/L
immediately, send serum frozen + non-frozen EDTA blood.
Epstein-Barr virus (PCR)
Tube:
Requirement:
Alternative:
EDTA
5 mL EDTA plasma
Buccal swab, CSF, body fluids
TAT:
7 days
Method: PCR
Epstein-Barr virus EA (D+R) IgG
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
7 days
Method: ELISA
Units: U/mL
This parameter is used to highlight a possible reactivation
of the virus.
Epstein-Barr virus EBNA IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: ELISA
Units: U/mL
Epstein-Barr virus IgG, IgM
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
6 days
Method: ELISA
Includes: VCA IgG, EBNA IgG, VCA IgM.
Units: µg/L
Epstein-Barr virus Monotest
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: Immunodiffusion
Epstein-Barr virus VCA IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: ELISA
Units: U/mL
General catalogue
69
General catalogue
Epstein-Barr virus VCA IgM
General catalogue
70
70
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: ELISA
Units: U/mL
Erythrocyte antigens
Tube:
Requirement:
EDTA
TAT:
3 days
Method: Gel-test
Erythrocyte folate
Tube:
Requirement:
TAT:
EDTA
3 days
Method: Immunoassay
Units: nmol/L
Erythrocyte magnesium
Remarks:
See: Magnesium (erythrocyte).
Erythropoietin Abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
13 days
Send frozen.
Escitalopram
Tube:
Requirement:
TAT:
Estradiol
Tube:
Requirement:
Alternative:
TAT:
Estriol, total
Tube:
Requirement:
TAT:
Estrone
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
5 days
Method: GC-MS
Units: nmol/L
Serum
0.2 mL Serum
6 days
Method: Immunoassay
Units: pmol/L
Serum
1 mL Serum
10 days
Method: FEIA
Units: nmol/L
Serum
3 mL Serum
7 days
Method: RIA
Units: pmol/L
General catalogue
Ethambutol (urine 24h)
Tube:
Requirement:
Urine
10 mL 24h urine
TAT:
Remarks:
10 days
Method: HPLC
Ethanol (serum)
Tube:
Requirement:
Alternative:
TAT:
Ethanol (Urine)
Serum
0.5 mL Serum
Fluorid plasma
7 days
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
6 days
Ethosuximide
Tube:
Requirement:
TAT:
Everolimus
Tube:
Requirement:
TAT:
Units: mmol/L
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
EDTA
10 days
Method: EMIT
Units: µg/L
Falciformation test
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Microscopy
Sickle cell test.
Fatty Acid, non esterified
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
7 days
Send frozen.
Fatty Acid, Very Long Chain
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
3 mL Serum, frozen
EDTA plasma
3 weeks
Method: GC
Units: µM
Send frozen. Includes: Behenate C22:0, Lignocerate C24:0,
Cerotinate C26:0, C24/C22 Ratio, C26/C22 Ratio.
General catalogue
71
General catalogue
Fecal pancreatic elastase
General catalogue
72
72
Tube:
Requirement:
TAT:
Felbamate
Tube:
Requirement:
TAT:
Ferritin
Tube:
Requirement:
TAT:
Fibrinogen
Tube:
Requirement:
TAT:
Remarks:
Fibronectine
Tube:
Requirement:
TAT:
Stool
1 g Stool
14 days
Method: ELISA
Units: µg/g
Serum without gel
1 mL Serum
6 days
Method: HPLC
Units: µmol/L
Serum
0.5 mL Serum
6 days
Method: Immunoassay
Units: µg/L
Citrate (1+9)
fibrinogen Units: g/L
3 days
Method: functional
assay
Approximately 2.5 mL of plasma is generally sufficient. Centrifuge
within 2 hours, freeze plasma within 6 hours after sampling.
EDTA
1 mL EDTA plasma
4 days
Units: g/L
FibroTest / ActiTest
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: Calculation
FII-G20210A, prothrombin
Tube:
Requirement:
EDTA
TAT:
Remarks:
4 days
Method: ELISA
To exclude the possibility of sample contamination, EDTA tubes
designated for molecular biology may not be opened or used for
other analytical purposes prior to analysis.
Filariasis IgG (ELISA)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
7 days
Method: ELISA
If positive. Confirmation by IF.
General catalogue
Tube:
Requirement:
TAT:
Flunitrazepam
Tube:
Requirement:
TAT:
Fluoride
Tube:
Requirement:
TAT:
Fluoxetine
Tube:
Requirement:
TAT:
Flupentixol
Tube:
Requirement:
TAT:
Flurazepam
Tube:
Requirement:
TAT:
Remarks:
Fluvoxamine
Tube:
Requirement:
TAT:
Folate
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: nmol/L
Serum
1 mL Serum
7 days
Units: µg/L
Method: Photometry
Serum
0.5 mL Serum
9 days
Method: LC-MS-MS
Units: µmol/L
Serum without gel
0.2 mL Serum
7 days
Method: LC
Units: nmol/L
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Also includes metabolite Desalkylflurazepam.
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Tube:
Requirement:
Alternative:
Serum
0.5 mL Serum
TAT:
6 days
Method: Immunoassay
Units: nmol/L
Units: µmol/L
General catalogue
Flecainide
73
General catalogue
Fractionated porphyrins (urine 24h)
General catalogue
74
74
Tube:
Requirement:
Urine
100 mL 24h urine
TAT:
Remarks:
10 days
Method: HPLC
Diet : avoid red meat and chlorophyll for 3 days before collection;
store at + 4°C, away from light. Indicate the volume of 24h. For
every 24h urine we add urinary creatinine to control for the time
period. Send 100 mL light protected urine.
Fractionated porphyrins (urine)
Tube:
Requirement:
TAT:
Remarks:
Spot urine
100 mL Spot urine
10 days
Method: EMIT
Units: µg/L
Diet : avoid red meat and chlorophyll for 3 days before
collection;Morning urine store at + 4°C, away from light.
Free Androgen Index
Tube:
Requirement:
Serum
2 mL Serum
TAT:
Remarks:
9 days
Includes Testosterone and SHBG.
Free Beta-hCG
See: Beta-hCG (free).
Remarks:
Free carnitin
Tube:
Requirement:
TAT:
Remarks:
Heparinized plasma
2 mL Heparinized plasma, frozen
14 days
Method: MS-MS
Units: µmol/l
Send frozen. These requirements + tubes/ material, relate to
Carnitine, Acylcarnitine and free Carnitine.
Free cortisol (urine 24h)
Tube:
Requirement:
Urine
50 mL 24h urine
TAT:
Remarks:
8 days
Method: RIA
creatinine to control for the time period. Send 50 mL urine.
Free hemoglobin
Tube:
Requirement:
TAT:
Remarks:
Serum
0.3 mL Serum
6 days
Any hemolysis increases the free hemoglobin.
Units: µmol/L
General catalogue
Free kappa/lambda light chains
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Units: mg/L
Free metanephrine
Tube:
Requirement:
TAT:
Remarks:
Free PSA
Remarks:
Free T3
Tube:
Requirement:
Alternative:
TAT:
Free T4
Tube:
Requirement:
Alternative:
TAT:
Heparin
2 mL Heparin plasma
14 days
Method: HPLC
Units: µg/L
Includes metanephrine and normetanephrine. To be frozen
in an hour.
See: PSA (free).
Serum
0.5 mL Serum
6 days
Method: Immunoassay
Units: pmol/L
Serum
0.5 mL Serum
6 days
Method: Immunoassay
Units: pmol/L
Free testosterone (calculated)
Tube:
Requirement:
TAT:
Remarks:
Fructosamine
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
7 days
Method: Calculation
Calculation (Total testosterone and SHBG).
Serum
0.5 mL Serum
3 days
Fructose intolerance
Tube:
Requirement:
Alternative:
EDTA
2.5 mL Citrate plasma
TAT:
5 days
Method: PCR/sequencing
Units: µg/L
Units: µmol/L
General catalogue
75
General catalogue
FSH
General catalogue
76
76
Tube:
Requirement:
Alternative:
TAT:
Serum
0.2 mL Serum
6 days
Method: Immunoassay
Units: IU/L
FV506Q, factor V Leiden
Tube:
Requirement:
EDTA
TAT:
Remarks:
4 days
Method: ELISA
To exclude the possibility of sample contamination, EDTA tubes
designated for molecular biology may not be opened or used for
other analytical purposes prior to analysis.
Gabapentin
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
Galactocerebrosidase
Tube:
Requirement:
Alternative:
Heparin
TAT:
20 days
Remarks:
Galactokinase
Units: nmol/17h/
mg
Method: Flourimetry
Tube:
Requirement:
EDTA
TAT:
10 days
Method: Enzymatic
Galactose-1-phosphate
Tube:
Requirement:
EDTA
See requirement
TAT:
Remarks:
10 days
Method: Fluorimetric
2 mL frozen haemolysate (wash 1mL EDTA whole blood with saline
solution, centrifuge, haemolyse the erythrocytes with 0.4 mL water).
Do not send EDTA blood.
Gamma-GT
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
3 days
Units: U/L
General catalogue
Gamma-tocopherol
Tube:
Requirement:
TAT:
Remarks:
Ganciclovir
Serum
1 mL Serum
6 days
Method: EMIT
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Units: µg/L
Method: LC-MS-MS
Ganglioside Profile
Tube:
Requirement:
Serum
3 mL Serum
TAT:
Remarks:
13 days
Method: EIA
Includes Ganglioside GM1, Ganglioside GM2, Ganglioside GD1a,
Ganglioside GD1b, Ganglioside GQ1b.
Gastrin
Tube:
Requirement:
TAT:
Remarks:
Gentamicin
Tube:
Requirement:
TAT:
Glibenclamide
Serum
0.5 mL Serum
6 days
Method: RIA
Units: pmol/L
Stop treatment before sampling: 24hours for anti-acid, a week for
inhibitors of proton pump. Send serum frozen.
Serum
1 mL Serum
7 days
Tube:
Requirement:
Serum
2 mL Serum
TAT:
13 days
Glucagon
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Units: mg/L
Aprotinin
1 month
Method: RIA
Units: pmol/L
immediately.In case of a stimulation test with pentagastrin,
please contact the lab.
General catalogue
77
General catalogue
Glucose
General catalogue
78
78
Tube:
Requirement:
TAT:
Glucose (CSF)
Tube:
Requirement:
TAT:
Fluoride
0.5 mL Fluoride plasma
3 days
Units: mmol/L
Plain
0.2 mL CSF
3 days
Units: mmol/L
Glucose (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Units: mmol/L
Glucose (urine 24h)
Tube:
Requirement:
Alternative:
Urine
10 mL 24h urine
10 mL Spot urine
TAT:
Remarks:
6 days
Indicate the volume of 24h.
Glucose, urine
Tube:
Requirement:
Alternative:
TAT:
Spot urine
10 mL Spot urine
10 mL 24h urine
6 days
Units: mmol/L
Glucose-6-phosphate dehydrogenase
Tube:
Requirement:
TAT:
EDTA
5 days
Units: Ery
Glutamate-deshydrogénase (GLDH)
Tube:
Requirement:
TAT:
Glutathione
Serum
1 mL Serum
7 days
Tube:
Requirement:
EDTA
TAT:
6 days
Remarks:
Method: HPLC
Units: U/L
General catalogue
79
Tube:
Requirement:
EDTA
TAT:
10 days
General catalogue
Glutathione reductase
Method: Photometry
Gluten intolerance
Tube:
Requirement:
EDTA
TAT:
5 days
Glutethimide
Tube:
Requirement:
Serum
2 mL Serum
TAT:
13 days
Glycated hemoglobin, HbA1c
Tube:
Requirement:
TAT:
Goblet cell Abs
EDTA
3 days
Method: HPLC
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Units: tot
Method: IF
Gonadotropins (FSH/LH)
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
6 days
Growth hormone (hGH, STH)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
8 days
Method: Immunoassay
Units: pmol/L
In case of a stimulation test with GRF, please contact the lab.
Send frozen.
Guanidinoacetic acid structure
Tube:
Requirement:
Serum
20 mL Urine
TAT:
10 days
Haemopexin
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Method: HPLC
General catalogue
Haemosiderin
General catalogue
80
80
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
Haloperidol
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
Hantavirus IgG, IgM
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
10 days
Haptoglobin
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Units: g/L
HbA1c (Glycated hemoglobin)
Remarks:
See: Glycated hemoglobin, HbA1c.
HBV Drug Resistance
Tube:
Requirement:
EDTA
TAT:
Remarks:
6 days
Method: PCR
Please send only unopened tubes.
hCG (free beta-hCG)
Remarks:
hCG (total)
Tube:
Requirement:
Alternative:
TAT:
See: Beta-hCG (free).
Serum
0.5 mL Serum
4 days
Method: Immunoassay
Units: IU/L
hCG (total) (tumor marker: testicles)
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Method: Immunoassay
HDL cholesterol
Remarks:
See: Cholesterol (HDL).
Units: IU/L
General catalogue
Tube:
Requirement:
TAT:
Remarks:
EDTA
10 days
Method: Microscopy
Draw on day of shipment.
Units: pmol/L
Helicobacter pylori (Stool Ag)
Tube:
Requirement:
TAT:
Stool
Stool
7 days
Method: EIA
Units: pmol/L
Helicobacter pylori IgG
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: ELFA
Hematocrit (puncture fluid)
Tube:
Requirement:
Plain
0.1 mL Fluid
TAT:
Remarks:
6 days
Units: L/L
Hemoglobin (puncture fluid)
Tube:
Requirement:
Plain
0.1 mL Fluid
TAT:
Remarks:
6 days
Units: g/L
Hemoglobin F
Tube:
Requirement:
TAT:
EDTA
5 days
Method: HPLC
Units: %
Heparin-induced thrombocytopenia abs
Tube:
Requirement:
Alternative:
Serum
3 mL Serum
Citrate Plasma
TAT:
4 days
Method: ELISA
Hepatitis A, IgM
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: EIA
Units: pmol/L
General catalogue
Heinz bodies
81
General catalogue
Hepatitis A, immunity (IgG)
General catalogue
82
82
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: EIA
Hepatitis B DNA (PCR)
Tube:
Requirement:
TAT:
Remarks:
EDTA
2.5 mL EDTA plasma
5 days
Method: PCR
Units: pmol/L
Analysis only with EDTA tube reserved only for this test.
Send frozen.
Hepatitis B Genotype
Tube:
Requirement:
EDTA
2.5 mL EDTA plasma
TAT:
Remarks:
7 days
Method: PCR-sequencing
Send frozen.
Hepatitis B, Anti-HBc Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Hepatitis B, Anti-HBc IgM Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Hepatitis B, Anti-HBe Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Hepatitis B, Anti-HBs Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
6 days
Method: EIA
Hepatitis B, full serology
Tube:
Requirement:
Serum
3 mL Serum
TAT:
6 days
Method: EIA
Units: lU/L
General catalogue
83
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
General catalogue
Hepatitis B, Hbe Ag
Method: EIA
Hepatitis B, HBs Ag
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Hepatitis B, screening (AgHBs, anti-HBc, anti-HBs)
Tube:
Requirement:
Serum
3 mL Serum
TAT:
6 days
Method: EIA
Hepatitis C genotype
Tube:
Requirement:
EDTA
5 mL EDTA plasma
TAT:
Remarks:
6 days
Method: PCR-sequencing
Analysis only with EDTA tube reserved only for this test. Send
frozen. If HCV viremia (IU/mL) has been performed within the last
6 month, please indicate the result. If HCV viremia (IU/mL) has not
been performed we will perform it before the genotyping.
Hepatitis C RNA (RT-PCR)
Tube:
Requirement:
TAT:
Remarks:
EDTA
5 mL EDTA plasma
6 days
Method: PCR
Units: IU/mL
Hepatitis C, Anti-HCV Ab
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
Hepatitis C, Immunoblot (confirmation test)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
6 days
Method: Immunoblot
Confirmatory test of positive screening HCV result. For screening,
request analysis Hepatitis C, Anti-HCV Ab (7660).
Hepatitis D, Anti HDV Ab
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: EIA
Units: Index
General catalogue
Hepatitis D, viral RNA (PCR)
General catalogue
84
84
Tube:
Requirement:
TAT:
Remarks:
EDTA
2 weeks
Method: PCR
Send frozen.
Units: copies/mL
Hepatitis E (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
HER2-Protein
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Method: EIA
Herpes simplex 1+2 (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: ELISA
Herpes simplex 1+2, (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
6 days
Method: PCR
Skin smear; vesicle; oral, conjunctival, throat or genital swab;
biopsy; CSF; wound; blood.
Herpes virus 6 (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Method: IF
Herpes virus 6 (PCR)
Tube:
Requirement:
Alternative:
TAT:
Remarks:
EDTA
CSF
5 days
Method: PCR
Send frozen.
Units: GEq/mL
Herpes virus 6 IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: IF
Units: Titer
General catalogue
Herpes virus 6 IgM
Tube:
Requirement:
TAT:
Hexoaminidase
Serum
1 mL Serum
10 days
Tube:
Requirement:
Serum
2 mL Serum
TAT:
3 weeks
Hexokinase
Method: IF
Tube:
Requirement:
EDTA
TAT:
10 days
Hippuric acid
Method: Enzymatic
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
Histamine
Units: Titer
Method: Allergen testing
Tube:
Requirement:
EDTA
TAT:
Remarks:
1 week
Send frozen
Method: RIA
Histoplasma capsulatum
Tube:
Requirement:
Serum
1 mL Serum
TAT:
8 days
Method: Immunodiffusion
HIV1 Antigen (p24)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
7 days
Method: EIA
If positive; confirmation by ELFA and Western blot.
HIV1 antiretroviral ther. resistance
Tube:
Requirement:
EDTA
TAT:
4 days
HIV1 RNA (Real-time PCR)
Tube:
Requirement:
TAT:
EDTA
2.5 mL EDTA plasma
6 days
Method: PCR
Units: copies/mL
General catalogue
85
General catalogue
HLA B27 (PCR)
General catalogue
86
86
Tube:
Requirement:
EDTA
TAT:
Remarks:
4 days
Method: PCR
Maintain the sample at 20-25°C, send to the lab on the day
of sampling.
Holotranscobalamin (active B12)
Tube:
Requirement:
TAT:
Homocystein
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum
0.5 mL Serum
7 days
Method: EIA / MEIA
Units: pmol/L
Fluoride
Serum, heparin or EDTA plasma
7 days
Method: Immunoassay
Units: µmol/L
Serum: allow to clot on ice, centrifuge at +4°C, decant the serum
and freeze immediately. Flourid, heparin or EDTA plasma:
centrifuge and decant within 30 min. freeze immediately.
Send sample frozen.
Homogentisic acid
Tube:
Requirement:
See requirement
Tumor tissue
TAT:
Remarks:
10 days
Method: RIA
Paraffin block with tumor tissue. Alternative specimen (but not
preferred): 1 g of tumor tissue (minimum: 500 mg). Freeze specimen
immediately after removal. Send frozen.
Human IgA Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
13 days
Method: WB
HVA (homovanillic acid)
Tube:
Requirement:
Alternative:
Urine
10 mL 24h urine+HCL
Spot urine
TAT:
Remarks:
7 days
Method: HPLC
Hyaluronic acid
Tube:
Requirement:
TAT:
Serum
1 mL Serum
9 days
Method: EIA
Units: µg/L
General catalogue
Hydroxychloroquine
Tube:
Requirement:
TAT:
Hydroxyzine
Serum
2 mL Serum
2 weeks
Method: LC-MS
Tube:
Requirement:
EDTA
TAT:
7 days
Units: µmol/L
Units: mg/L
Hypothalamus Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
13 days
IFN gamma
Tube:
Requirement:
TAT:
IgA
Tube:
Requirement:
TAT:
IgD
Serum
1 mL Serum
7 days
Serum
0.2 mL Serum
4 days
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
IgE, total
Tube:
Requirement:
TAT:
Units: ng/L
Units: g/L
Method: IDR
Serum
0.2 mL Serum
6 days
Method: EIA
IGF-1 (somatomedin C)
Tube:
Requirement:
TAT:
Remarks:
Method: ELISA
Units: kU/L
Serum
1 mL Serum
10 days
Method: RIA
Units: nmol/L
Centrifuge at +4°C within 30 min, decant and freeze
plasma immediately.
General catalogue
87
General catalogue
IGF-binding protein 3
General catalogue
88
88
Tube:
Requirement:
TAT:
Remarks:
IgG
Tube:
Requirement:
TAT:
IgG IgA IgM
Tube:
Requirement:
TAT:
IgG subclasses
Tube:
Requirement:
TAT:
IgM
Tube:
Requirement:
TAT:
IL-1 alpha
Tube:
Requirement:
TAT:
IL-1 beta
Serum
2 mL Serum
13 days
Method: RIA
Units: mg/L
Serum
0.2 mL Serum
4 days
Units: g/L
Serum
0.5 mL Serum
4 days
Units: g/L
Serum
0.4 mL Serum
7 days
Units: g/L
Serum
0.2 mL Serum
4 days
Units: g/L
Serum
1 mL Serum
10 days
Method: ELISA
Units: ng/L
Method: ELISA
Units: ng/L
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
IL-2
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Imipramine + Des.Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
General catalogue
Immuno reactive trypsin
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
2 weeks
Method: RIA
Freeze quickly after sampling and send frozen.
Immunoblot HIV-1/2
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Indinavir
Tube:
Requirement:
TAT:
Influenza A, B
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Inhibin B
Tube:
Requirement:
TAT:
Remarks:
Insulin
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Method: WB
Units: µg/L
Serum
1 mL Serum
10 days
Method: EIA
Units: ng/L
EDTA
0.4 mL EDTA plasma, frozen
0.5 mL Serum
3 days
Method: Immunoassay
Units: mU/L
Centrifuge at +4°C, decant the serum/plasma and freeze
Insulin receptor Abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Interleukin 2, soluble receptor
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: ELISA
Units: ng/L
General catalogue
89
General catalogue
Interleukin 6
General catalogue
90
90
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: ELISA
Units: ng/L
Iodine (Urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Ionized calcium
Urine
10 mL 24h urine
10 days
Method: ICP-MS
Units: µg/24h
Tube:
Requirement:
Serum
See requirements
TAT:
Remarks:
3 days
Units: mmol/L
Collect 1 Serum tube anaerobically: Centrifuge without opening the
tube and refrigerate. Send at +4°C.
Iron
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
6 days
Units: µmol/L
Irregular allo antibodies
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Gel-test
including: name, date of birth of the patient and the date and time
of sampling.
Islet cell antigen 2
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Isoniazid
Tube:
Requirement:
TAT:
Remarks:
Method: RIA
EDTA
7 days
Method: HPLC
Units: mg/L
Sampling 3h after taking the drug. Centrifuge at +4°C within 30
min, decant and freeze plasma immediately.
General catalogue
Itraconazole + Met.
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
7 days
Method: HPLC
Units: µg/L
Japan B encephalitis Abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
13 days
Kappa/lambda light chains (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
7 days
Units: mg/24h
Kappa/lambda light chains (urine)
Tube:
Requirement:
Alternative:
Spot urine
10 mL Spot urine
24h urine
TAT:
7 days
Kell antigen
Tube:
Requirement:
EDTA
TAT:
5 days
Ketone bodies
Tube:
Requirement:
Fluoride
TAT:
3 days
Ketone bodies (urine)
Tube:
Requirement:
Spot urine
1 mL Spot urine
TAT:
6 days
Kleihauer test (fetal Hb)
Tube:
Requirement:
EDTA
TAT:
3 days
Method: Colorimetry
General catalogue
91
General catalogue
L.S.D
General catalogue
92
92
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
7 days
Lactate
Tube:
Requirement:
TAT:
Lactate (CSF)
Tube:
Requirement:
TAT:
Remarks:
Method: EIA
Fluoride
3 days
Units: mmol/L
Fluoride
0.5 mL CSF
3 days
Units: mmol/L
Lactate (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
4 days
Do not freeze.
Units: U/L
Lactose intolerance
Tube:
Requirement:
TAT:
Lamotrigine
Tube:
Requirement:
TAT:
LDH
Tube:
Requirement:
TAT:
Remarks:
LDH (CSF)
Plain
0.5 mL CSF
3 days
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Serum
0.5 mL Serum
4 days
Do not freeze.
Tube:
Requirement:
Plain
0.5 mL CSF
TAT:
3 days
Units: U/L
Units: µmol/L
Units: U/L
Units: U/L
General catalogue
LDH (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Method: RIA
Units: pmol/L
LDL Cholesterol
Remarks:
L-dopa
Tube:
Requirement:
TAT:
Lead
Tube:
Requirement:
TAT:
See: Cholesterol (LDL)
Serum without gel
1 mL Serum
4 days
Method: HPLC
Units: µmol/L
Trace element
11 days
Method: ICP-MS
Units: µg/L
Lead (Urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
50 mL 24h urine
10 days
Method: ICP-MS
Units: µg/24h
creatinine to control for the time period. Send 50 mL urine.
Legionella (antigen)
Tube:
Requirement:
Urine
2 mL Spot urine
TAT:
6 days
Method: EIA
Legionella pneumophila (IgG, IgM)
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
8 days
Method: IF
Legionella pneumophila (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
7 days
Method: PCR
Sputum, BAL, bronchial aspiration.
General catalogue
93
General catalogue
Leptin
General catalogue
94
94
Tube:
Requirement:
TAT:
Remarks:
Leptospirosis
Tube:
Requirement:
TAT:
Remarks:
Levetiracetam
Tube:
Requirement:
TAT:
Serum
1 mL Serum
1 month
Method: EIA
Units: µg/L
Freeze within 1 hour, send frozen. Add patient weight and
height to Request Form.
Serum
1 mL Serum
7 days
Method: Complement fixation Units: Titer
Species: canicola, icterohaemorragiae, pomona, sejroe,
grippothyphosa.
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
Levomepromazine
Tube:
Requirement:
Serum without gel
0.2 mL Serum
TAT:
4 days
Units: nmol/L
Serum
0.2 mL Serum
0.2 mL EDTA plasma
6 days
Method: Immunoassay
Units: IU/L
Spot urine
10 mL Spot urine
6 days
Method: Immunoassay
Units: U/L
LH
Tube:
Requirement:
Alternative:
TAT:
LH (urine)
Tube:
Requirement:
TAT:
Lidocaine
Tube:
Requirement:
Serum without gel
2 mL Serum
TAT:
6 days
Units: mg/L
Serum
0.5 mL Serum
4 days
Method: Colorimetry
Units: U/L
Lipase
Tube:
Requirement:
TAT:
General catalogue
Lipase (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Lipoprotein (a)
Tube:
Requirement:
TAT:
Plain
0.1 mL Fluid
6 days
Method: Colorimetry
Units: U/L
Serum
0.5 mL Serum
4 days
Units: mg/L
Lipoprotein Electrophoresis
Tube:
Requirement:
TAT:
Remarks:
Lipoprotein X
Serum
0.5 mL Serum
7 days
The patient must be fasting for at least 14h.
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Listeria
Tube:
Requirement:
TAT:
Lithium
Tube:
Requirement:
TAT:
Remarks:
Lopinavir
Tube:
Requirement:
TAT:
Lorazepam
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
5 days
Units: %
Units: Titer
Serum without gel
0.2 mL Serum
3 days
Method: ISE
Units: mmol/L
Collect sample 12 hours after taking the drug in the evening.
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Units: µg/L
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
General catalogue
95
General catalogue
Lupus anticoagulant
General catalogue
96
96
Tube:
Requirement:
Citrate (1+9)
TAT:
Remarks:
7 days
Method: Immunoassay
Avoid contamination by tissue factors and anticoagulants.
Moderately tighten the withers and reject the first mL after
hemolysis reject the sample. Only this test in cryotube. Centrifuge
within 2 hours, freeze plasma.
Lyme disease
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: EIA/ELFA
Lymphocyte typing (CD3, CD4, CD8)
Tube:
Requirement:
EDTA
TAT:
3 days
Lysozyme
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
10 days
Send frozen.
Method: Cytometry
Units: mg/L
Spot urine
10 mL Spot urine
8 days
Units: mg/L
Lysozyme (urine)
Tube:
Requirement:
TAT:
M. Tuberculosis (QuantiFERON Gold)
Tube:
Requirement:
TAT:
Remarks:
Special
See requirement
7 days
Method: IGRA
According to collection kit.
Units: IU/mL
M. Tuberculosis (T Spot TB)
Tube:
Requirement:
Special
TAT:
5 days
M2-PK
Method: IGRA
Tube:
Requirement:
EDTA
1 mL EDTA plasma
TAT:
Remarks:
10 days
Method: ELISA
Warning: False increased values caused by haemolysis. Separate
plasma from cells within 4h.
General catalogue
97
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
14 days
Macro GOT
Tube:
Requirement:
Serum
1 mL Serum
TAT:
14 days
Macro Lipase
Tube:
Requirement:
Serum
2 mL Serum
TAT:
14 days
General catalogue
Macro creatinine kinase
Macro-prolactin
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Units: %
Serum
0.5 mL Serum
4 days
Units: mmol/L
Magnesium
Tube:
Requirement:
TAT:
Magnesium (erythrocyte)
Tube:
Requirement:
TAT:
Remarks:
EDTA
5 days
Method: AAS
Do not freeze.
Units: mmol/L
Magnesium (Urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
6 days
Units: mmol/24h
Magnesium (urine)
Tube:
Requirement:
Alternative:
TAT:
Spot urine
10 mL Spot urine
10 mL 24h urine
6 days
Units: mmol/L
General catalogue
Malaria abs
General catalogue
98
98
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: IF
Units: Titer
Malondialdehyde
Tube:
Requirement:
Heparin
1 mL Heparin plasma
TAT:
Remarks:
10 days
Manganese (blood)
Tube:
Requirement:
TAT:
Remarks:
Maprotiline
Tube:
Requirement:
TAT:
Trace element
12 days
Method: ICP-MS
Send un-opened tube.
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µg/L
Units: µmol/L
Measles (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
5 days
Method: EIA
Measles, immunity (IgG)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: EIA
Units: Index
Mefenamic acid
Tube:
Requirement:
TAT:
Remarks:
Melitracen
Serum without gel
0.2 mL Serum
4 days
Method: GC-MS
Keep the sample at 4°C.
Units: µmol/L
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Units: mg/L
Serum without gel
1.5 mL Serum
4 days
Method: HPLC
Units: µmol/L
Mephenytoin
Tube:
Requirement:
TAT:
General catalogue
Tube:
Requirement:
TAT:
Mercury (hair)
Trace element
11 days
Method: ICP-MS
Tube:
Requirement:
Plain
100 mg Hair
TAT:
10 days
Units: µg/L
Method: AAS
Mercury (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Metanephrines
Urine
20 mL 24h urine
2 weeks
Method: ICP-MS
Units: µg/24h
Tube:
Requirement:
Urine
10 mL 24h urine+HCL
TAT:
Remarks:
7 days
Method: HPLC
Methadone
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
6 days
Methaqualone
Method: EMIT
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
10 days
Methotrexate
Tube:
Requirement:
TAT:
Remarks:
Method: EMIT
Serum without gel
0.2 mL Serum
4 days
Method: FPIA
Units: µmol/L
Collect the sample according to treatment protocol.
Methyl hippuric acid
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
General catalogue
Mercury
99
General catalogue
Methyl mercury
General catalogue
100
100
Tube:
Requirement:
EDTA
TAT:
10 days
Method: GC-MS
Methylmalonic Acid
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
7 days
Method: GC-MS
Units: nmol/L
Methylphenidate
Tube:
Requirement:
Serum without gel
0.2 mL Serum
TAT:
4 days
Remarks:
Metoprolol
Method: Liquid
Chromatography
Tube:
Requirement:
Serum
2 mL Serum
TAT:
2 weeks
Mexitil
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Units: nmol/L
Method: HPLC
Method: HPLC
Mianserine + Desm.Tube:
Requirement:
TAT:
Midazolam
Tube:
Requirement:
TAT:
Remarks:
Mirtazapine
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: Mass Spectrometry
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Also includes metabolite 1-OH-Midazolam.
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: µmol/L
Units: µmol/L
Units: nmol/L
General catalogue
Mistellectin IgG 1-4 abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Moclobemide
Tube:
Requirement:
TAT:
Method: EIA
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
Molybdenum (plasma)
Tube:
Requirement:
Trace element
0.5 mL Plasma, trace elements
TAT:
Remarks:
1 week
Method: SAA
Do not freeze.
Molybdenum (Urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
1 week
Method: SAA
Reported as creatinine ratio.
Morphine
Tube:
Requirement:
TAT:
Fluoride
1 mL Fluoride whole blood
7 days
Method: EMIT
Units: nmol/L
Mouth mucosa abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Mucopolysaccharides
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
Method: HPLC
Mumps (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: EIA
Mumps, immunity (IgG)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: EIA
Units: Index
General catalogue
101
General catalogue
Mycobacteria (culture and direct examination)
General catalogue
102
102
Tube:
Requirement:
Alternative:
Plain
See requirement
Sterile
TAT:
Remarks:
7 days
Sputum, BAL, bronchial aspirate, pleural fluid, lung biopsy, urine.
Mycobacterium tuberculosis complex (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
7 days
Method: PCR
Sputum, BAL, bronchial aspirate, pleural fluid, lung biopsy, urine.
Mycophenolate
Tube:
Requirement:
TAT:
Remarks:
EDTA
0.2 mL EDTA plasma
5 days
Method: EMIT
Units: mg/L
Mycophenolic acid
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Mycoplasma pneumoniae Ig
Tube:
Requirement:
TAT:
Myoglobin
Tube:
Requirement:
TAT:
Myoglobin
Tube:
Requirement:
TAT:
Myosin abs
Serum
1 mL Serum
4 days
Units: Titer
Serum
1 mL Serum
4 days
Units: µg/L
Urine
10 mL Spot urine
7 days
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Units: nmol/L
General catalogue
103
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
General catalogue
N-acetyl-glucosaminidase
N-Desmethyl-mesuximide
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: HPLC
Neisseria gonorrhoeae (FC)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
5 days
Neisseria gonorrhoeae (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
7 days
Method: PCR
Urogenital swabs, urine, synovial fluid. Warning: This is an analysis
of molecular biology, not of serology. Do not send serum.
Nelfinavir
Tube:
Requirement:
TAT:
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Units: µg/L
Neonatal screening
Tube:
Requirement:
Blood card
See requirement
TAT:
Remarks:
7 days
6-9 drops of blood on a special filter card. The child must be at least
36 hours old when this sample is taken. Indicate birth weight and
sample date and time on request form. Includes haemoglobins,
amino acids, Gal-1-P Uridyltransferase, Galactose, TSH, Biotinidase,
17 OH-Progesterone, Acylcarnitines.
Neopterin
Tube:
Requirement:
Serum
2 mL Serum
TAT:
2 weeks
Netilmicine
Tube:
Requirement:
Serum
1 mL Serum
TAT:
5 days
Method: Immunoassay
Method: FPIA
General catalogue
Neuroendothelial Abs
General catalogue
104
104
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Neurofilaments Abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Névirapine
Tube:
Requirement:
TAT:
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Niacin
See: Vitamin PP (niacin)
Remarks:
Nickel (plasma)
Tube:
Requirement:
Trace element
TAT:
Remarks:
1 week
Method: SAA
Do not freeze.
Nickel (Urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
1 week
Method: SAA
Nitrazepam
Tube:
Requirement:
Serum without gel
0.2 mL Serum
TAT:
4 days
Units: µg/L
Method: HPLC
Nor-/Metanephrine
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Nortryptilin
Tube:
Requirement:
TAT:
Heparin
2 mL Heparin plasma
2 mL Serum
10 days
Method: HPLC
To be frozen within an hour.
Serum without gel
0.2 mL Serum
7 days
Method: HPLC
Units: nmol/L
Units: µmol/L
General catalogue
Tube:
Requirement:
TAT:
NT-proBNP
Tube:
Requirement:
Alternative:
TAT:
NTx (urine)
Serum
1 mL Serum
7 days
Method: RIA
Units: µg/L
Serum
0.5 mL Serum
3 days
Units: ng/L
Tube:
Requirement:
Spot urine
5 mL Spot urine
TAT:
Remarks:
7 days
Method: EIA
First or second morning urine.
Olanzapine
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
Oligoclonal binding
Tube:
Requirement:
See requirement
See requirement
TAT:
Remarks:
10 days
Method: Isofocusing
1 mL Serum and 2 mL CSF.
Oligosaccharides
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
2 weeks
Opiates
Method: HPLC
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
6 days
Opipramol
Tube:
Requirement:
TAT:
Method: EMIT
Serum without gel
0.2 mL Serum
4 days
Method: GC-MS
Units: nmol/L
General catalogue
NSE
105
General catalogue
Organic acids
General catalogue
106
106
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
Remarks:
2 weeks
Method: LC-MS
First morning urine. Freeze immediately and send frozen.
Orosomucoid
Tube:
Requirement:
TAT:
Orotic acid
Serum
0.5 mL Serum
4 days
Units: g/L
Tube:
Requirement:
Urine
10 mL 24h urine
TAT:
Remarks:
2 weeks
Method: HPLC
Keep refrigerated during collection. Indicate 24h volume and send
frozen.For every 24h urine we add urinary creatinine to control for
the time period.
Osmolality
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Method: freezing
Units: mOsm/kg
Osmolality (Urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
6 days
Method: Freezing
Units: mOsm/24h
Osmolality (urine)
Tube:
Requirement:
TAT:
Osteocalcin
Tube:
Requirement:
TAT:
Remarks:
Spot urine
10 mL Spot urine
6 days
Method: freezing
Units: mOsm/kg
Serum
1 mL Serum
5 days
Method: RIA
Units: µg/L
Allowed to clot, centrifuge at +4°C, decant the serum and freeze
immediately. To be send frozen.
General catalogue
Osteoporosis screening
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
4 days
Units: nmol/L
Includes Calcium, Creatinine, Pyridinoline, Desoxypyridinoline.
Oxalate (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Oxazepam
Tube:
Requirement:
TAT:
Oxcarbazepine
Tube:
Requirement:
TAT:
Oxycodone
Tube:
Requirement:
TAT:
Urine
5 mL 24h urine
7 days
Units: umol/24h
Store Urine at +4 ⁰C between urinations. Indicate the volume of 24h.
Avoid rhubarb, tomatoes, asparagus, cucumber 48hour before start
of collection. Send frozen urine.
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
Serum without gel
0.2 mL Serum
7 days
Method: Mass Spectrometry
Units: µmol/L
Serum without gel
0.2 mL Serum
7 days
Method: HPLC-MS
Units: nmol/L
Oxyhemoglobin
Tube:
Requirement:
TAT:
Heparin
6 days
Units: %
P. falciparum Ag screening
Tube:
Requirement:
EDTA
TAT:
3 days
Method: ICT
P1NP (Procollagen 1 N-terminal peptide)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
4 days
Method: RIA
Take before 9am. Send frozen.
Units: µg/L
General catalogue
107
General catalogue
p24 Ag/anti-HIV 1+2 Ab (4th gen.)
General catalogue
108
108
Tube:
Requirement:
Serum
3 mL Serum
TAT:
3 days
P53 Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Method: EIA
Method: ELISA
PAH (Para-amino hippuric acid)
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Paliperidone
Tube:
Requirement:
TAT:
Palladium
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Tube:
Requirement:
Spot urine
1 mL Spot urine
TAT:
Remarks:
10 days
Method: ICP
Units: nmol/L
Pancreatic amylase
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Units: U/L
Pancreatic amylase (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Units: U/L
Pancreatic amylase (urine)
Tube:
Requirement:
TAT:
Spot urine
10 mL Spot urine
6 days
Pancreatic duct epithelial Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Units: U/L
General catalogue
109
Tube:
Requirement:
Serum
2 mL Serum
TAT:
4 days
General catalogue
Pancreatic fraction
Pancreatic polypeptide
Tube:
Requirement:
Alternative:
Aprotinin
TAT:
3 weeks
Pantothenate
See: Vitamin B5 (pantothenate)
Remarks:
PAP test
Method: RIA
Tube:
Requirement:
Pap Smear Kit
See requirement
TAT:
Remarks:
5 days
Method: Microscopy
Provide two microscope slides with cervical specimen deposited
and air- dried.
Papillomavirus high oncogenic risk (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
6 days
Method: PCR
Vaginal, cervical and urethral smears, urine.
PAPP-A.
Tube:
Requirement:
TAT:
Paracetamol
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Serum without gel
0.2 mL Serum
4 days
Method: FPIA
Parainfluenza 1, 2, 3
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Units: mU/L
Units: mmol/L
General catalogue
Parasites in blood (Malaria)
General catalogue
110
110
Tube:
Requirement:
EDTA
TAT:
Remarks:
3 days
Method: Microscopy
Define the parasites to search: Plasmodium, agents of filariasis,
Trypanosoma, etc. Plasmodium: the sample taken during a febrile
illness. Agents of filariasis: take the sample at the appropriate
intervals for alternatives to day or night.
Parathormone (intact)
Tube:
Requirement:
TAT:
Remarks:
EDTA
2 mL EDTA plasma
3 days
Method: Immunoassay
Freeze and send frozen.
Units: pmol/L
Parathyroid Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Parathyroid tissue Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Paroxetine
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
Parvovirus B19 (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: ELISA
Parvovirus B19 (PCR)
Tube:
Requirement:
Alternative:
TAT:
Remarks:
EDTA
1 mL EDTA plasma
CSF, synovial fluid aspiration, biopsy, amniotic fluid, serum, EDTA
plasma, bone marrow
6 days
Method: PCR
If EDTA plasma selected - send frozen.
Parvovirus B19 IgG (EIA)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: ELISA
Units: Index
General catalogue
111
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
Perazine
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Peroxide
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
7 days
Perphenazine
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
General catalogue
Pentachlorophenol
pH (puncture fluid)
Tube:
Requirement:
Plain
0.1 mL Fluid
TAT:
Remarks:
6 days
Phenacetin (Paracetamol)
Tube:
Requirement:
Urine
20 mL Spot urine
TAT:
10 days
Phencyclidine
Method: GC-MS
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
6 days
Phenobarbital
Tube:
Requirement:
TAT:
Phenol
Method: EMIT
Serum without gel
0.2 mL Serum
4 days
Method: EIA
Tube:
Requirement:
Urine
10 mL Spot urine
TAT:
10 days
Units: µmol/L
General catalogue
Phenyl mercapturic acid
General catalogue
112
112
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
10 days
Phenytoin
Tube:
Requirement:
TAT:
Method: GC-MS
Serum
0.2 mL Serum
4 days
Method: EIA
Units: µmol/L
Phosphate (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Phosphates
Tube:
Requirement:
TAT:
Urine
10 mL 24h urine
6 days
Units: mmol/24h
Serum
0.5 mL Serum
4 days
Units: mmol/L
Phosphates (urine)
Tube:
Requirement:
TAT:
Spot urine
10 mL Spot urine
6 days
Units: mmol/L
Phosphatidylserine Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
PhosphoTau
Tube:
Requirement:
Plain
1 mL CSF
TAT:
10 days
Phylloquinone
See: Vitamin K1 (phylloquinone)
Remarks:
Phytanate
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Method: ELISA
Serum
2 mL Serum
EDTA plasma or heparin plasma
1 month
Method: GC-MS
Units: µmol/L
Centrifuge and decant serum (plasma) and keep refrigerated
at +4°C or frozen.
General catalogue
Tube:
Requirement:
Serum without gel
0.2 mL Serum
TAT:
Remarks:
5 days
Method: HPLC
Pituitary Abs
Tube:
Requirement:
Serum
2 mL Serum
TAT:
10 days
Plasma Silver
Tube:
Requirement:
Alternative:
TAT:
Plasminogen
Tube:
Requirement:
TAT:
Remarks:
Heparin
3 mL Heparin plasma
3 mL EDTA plasma
2 weeks
Method: MS
General catalogue
Pipamperone
113
Units: µg/L
Citrate (1+9)
6 days
Method: Functional
Units: %
coagulation
within 2 hours, freeze plasma.
Platinum (plasma)
Tube:
Requirement:
Alternative:
TAT:
Heparin
5 mL Heparin plasma
5 mL EDTA plasma
10 days
Method: SAA
Units: µg/L
Pneumocystis jiroveci (carinii) (PCR)
Tube:
Requirement:
Alternative:
PCR
See requirement
Sterile
TAT:
Remarks:
7 days
Method: PCR
Sputum, BAL, bronchial aspiration, pleural fluid, lung biopsy.
Poliovirus I, II, III
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Method: Neutralization
General catalogue
Polyoma BK-virus
General catalogue
114
114
Tube:
Requirement:
TAT:
EDTA
6 days
Method: PCR
Units: copies/mL
Porphobilinogen (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
10 days
Remarks:
Units: mmol/mol
crea
Morning urine. Keep the urine at +4°C and protected
from light.
Porphobilinogen deaminase
Tube:
Requirement:
TAT:
Remarks:
Heparin
5 mL Heparin plasma
2 weeks
Units: nmol/mL/h
Porphyrin profile (urine)
Tube:
Requirement:
Urine
100 mL 24h urine
TAT:
Remarks:
10 days
Method: HPLC
store at +4°C, away from light.Indicate the volume of 24h. For every
24h urine we add urinary creatinine to control for the time period.
Porphyrins in faeces
Tube:
Requirement:
Stool
Stool
TAT:
Remarks:
5 days
Potassium
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Method: ISE
Potassium (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Units: mmol/L
Urine
10 mL 24h urine
6 days
Method: ISE
Units: mmol/24h
General catalogue
Tube:
Requirement:
TAT:
Pregabaline
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
4 days
Units: g/L
Serum without gel
0.2 mL Serum
5 days
Method: LC
Units: µmol/L
Pregnancy test (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
6 days
Method: EIA
Indicate the date of last menstrual period.
Pregnandiol
Tube:
Requirement:
Urine
5 mL 24h urine
TAT:
Remarks:
2 weeks
Method: Enzymatic method
Pregnanetriol
Tube:
Requirement:
Urine
50 mL 24h urine
TAT:
Remarks:
2 weeks
Method: GC-MS
Prickle cell desmosomes Abs
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Primidone
Tube:
Requirement:
TAT:
Remarks:
Pro-BNP
Tube:
Requirement:
Alternative:
TAT:
Method: IF
Serum without gel
0.2 mL Serum
4 days
Method: EIA
Units: µmol/L
Includes determination of phenobarbital, the active metabolite
of primidone.
Heparin
1 mL Serum
1 mL Heparin plasma
4 days
Units: ng/L
General catalogue
Prealbumin
115
General catalogue
Procainamide/N-acetylprocainamide
General catalogue
116
116
Tube:
Requirement:
Serum
3 mL Serum
TAT:
Remarks:
7 days
Procainamide and N-acetylprocainamide are always performed
together.
Procalcitonin (quantitative)
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
3 days
Method: ELFA
Units: µg/L
Serum must be stored and send cooled (4-8°C).
Procollagen 1 N-terminal peptide
Remarks:
Procollagen lll
Tube:
Requirement:
TAT:
Remarks:
Progesterone
Tube:
Requirement:
Alternative:
TAT:
Proinsulin
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Prolactin
Tube:
Requirement:
Alternative:
TAT:
Promazine
Tube:
Requirement:
TAT:
See: P1NP
Serum
1 mL Serum
2 weeks
Method: RIA
Units: kU/L
Serum
0.2 mL Serum
4 days
Method: Immunoassay
Units: nmol/L
Serum
3 mL Serum
3 mL EDTA plasma
10 days
Method: RIA
Units: pmol/L
Patient must be fasting fro 12 hours before sampling. Send frozen.
Serum
0.2 mL Serum
4 days
Method: Immunoassay
Units: µg/mL
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS
Units: µmol/L
General catalogue
Tube:
Requirement:
TAT:
Propoxyphen
Serum without gel
3 mL Serum
5 days
Method: HPLC
Tube:
Requirement:
Spot urine
50 mL Spot urine
TAT:
10 days
Propranolol
Tube:
Requirement:
Serum
2 mL Serum
TAT:
2 weeks
Units: µmol/L
Method: EMIT
Method: HPLC
Propylphenazone
Tube:
Requirement:
Alternative:
Serum
2 mL Serum
20 mL Gastric fluid
TAT:
10 days
Method: HPLC
Protein C (activity)
Tube:
Requirement:
TAT:
Remarks:
Citrate (1+9)
7 days
Method: ELISA
Units: %
Centrifuge within 2 hours, decant and freeze plasma immediately.
Analysis not feasible for a patient treated with anti-vitamin K. Only
one test in the cryotube.
Protein C (antigen)
Tube:
Requirement:
Citrate (1+9)
TAT:
Remarks:
7 days
Centrifuge within 2 hours, freeze plasma.
Protein electrophoresis
Tube:
Requirement:
Serum
0.2 mL Serum
TAT:
4 days
Protein electrophoresis (CSF)
Tube:
Requirement:
Plain
See requirement
TAT:
Remarks:
1 week
2 mL CSF and 1 mL Serum.
General catalogue
Propafenone
117
General catalogue
Protein electrophoresis by immunofixation (urine 24h)
General catalogue
118
118
Tube:
Requirement:
Urine
10 mL 24hs urine
TAT:
Remarks:
8 days
Indicate the volume of 24h. Albumin, Tubulin and GAM
Immunoglobulins fractions. For every 24h urine we add urinary
Protein electrophoresis by immunofixation (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
8 days
Albumin, Tubulin and GAM Immunoglobulins fractions.
Protein immunoelectrophoresis
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
Remarks:
4 days
Indicate the clinical data.
Protein immunoelectrophoresis (urine 24h)
Tube:
Requirement:
Urine
10 mL 24h urine
TAT:
Remarks:
8 days
Indicate the volume of 24h. Paraproteinemia research in urines
(Bence-Jones protein). Indicate the clinical data. For every 24h urine
Protein immunoelectrophoresis (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
8 days
Paraproteinemia research in urines (Bence-Jones protein).
Indicate the clinical data.
Protein profile
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
4 days
Includes IgA, IgG, IgM, Complement C3, Orosomucoid, Haptoglobin,
transferrin, Albumin, CRP.
Protein S, free (antigen)
Tube:
Requirement:
TAT:
Remarks:
Citrate (1+9)
7 days
Method: ELISA
Units: %
Only one test in the cryotube.
General catalogue
Protein S, total (antigen)
Tube:
Requirement:
Citrate (1+9)
TAT:
Remarks:
7 days
Units: %
Only one test in the cryotube
Proteins (CSF)
Tube:
Requirement:
TAT:
Plain
0.5 mL CSF
3 days
Units: mg/L
Proteins (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Units: g/L
Proteins (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine
6 days
Method: Colorimetry
Units: mg/24h
Proteinuria - Differentiation (urine)
Tube:
Requirement:
Spot urine
10 mL Spot urine
TAT:
Remarks:
10 days
Includes albumin, transferrin, IgG, alpha-1-microglobulin,
alpha-2- macroglobulin.
PSA
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
Remarks:
4 days
Method: Immunoassay
Send frozen serum.
PSA (free)
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
3 days
Method: Immunoassay
Units: µg/L
General catalogue
119
General catalogue
PSA Screening
General catalogue
120
120
Tube:
Requirement:
Serum
0.2 mL Serum
TAT:
Remarks:
3 days
Method: Immunoassay
Send frozen serum. Free PSA in addition, following the result).
PTH-related protein
Tube:
Requirement:
TAT:
Remarks:
PT-INR
Tube:
Requirement:
TAT:
Remarks:
PTT
Tube:
Requirement:
TAT:
Remarks:
Aprotinin
7 days
Method: RIA
Units: pmol/L
Centrifuge, decant and freeze plasma immediately.
Citrate (1+9)
3 days
Method: Functional
Units: %
coagulation
Approximately 2.5 mL of plasma is generally sufficient
Citrate (1+9)
3 days
Method: Functional
Units: sec
coagulation
Approximately 2.5 mL of plasma is generally sufficient
Pyridinoline (U-spot)
Tube:
Requirement:
TAT:
Remarks:
Spot urine
10 mL Spot urine
10 days
Method: HPLC
Second fasting morning urine.
Pyridoxal-P
See: Vitamin B6 (pyridoxal-P)
Remarks:
Pyruvate
Tube:
Requirement:
TAT:
Remarks:
Units: nmol/L
Serum
See requirements
5 days
Units: µmol/L
Immediately after sampling (before clotting) transfer exactly 2.0
mL of blood into a tube containing 2.0 mL of perchloric acid. (If
pediatry: 1.0 mL of each)Freeze the mixture, and send it.
General catalogue
Pyruvate kinase
Tube:
Requirement:
TAT:
Q fever
EDTA
4 days
Method: Enzymatic method
Tube:
Requirement:
Serum
1 mL Serum
TAT:
5 days
Quetiapine
Tube:
Requirement:
TAT:
Quinidine
Tube:
Requirement:
TAT:
Quinine
Method: IF
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
Serum without gel
0.2 mL Serum
7 days
Method: FPIA
Units: µmol/L
Tube:
Requirement:
Serum
2 mL Serum
TAT:
Remarks:
10 days
Method: HPLC
R,S-Methadone
Tube:
Requirement:
TAT:
RBC lithium
Tube:
Requirement:
TAT:
Reboxetine
Tube:
Requirement:
TAT:
Units: Hb
Serum
2.5 mL Serum
5 days
Method: HPLC-MS
Units: µg/L
EDTA
4 days
Method: Flame photometry
Units: mmol/L
Serum without gel
0.2 mL Serum
4 days
Method: LC
Units: nmol/L
Reducing bodies (urine)
Tube:
Requirement:
Spot urine
5 mL Urine
TAT:
4 days
General catalogue
121
General catalogue
Renin mass
General catalogue
122
122
Tube:
Requirement:
TAT:
Remarks:
EDTA
1 mL EDTA plasma
7 days
Method: RIA
Units: ng/L
Interrupt hypertensive treatment two weeks before. Collect,
centrifuge at +4°C within 30 min, decant and freeze plasma.
Renin mass, decubitus
Tube:
Requirement:
TAT:
Remarks:
Replaced by F2
Tube:
Requirement:
TAT:
EDTA
1 mL EDTA plasma
7 days
Method: RIA
Units: ng/L
Interrupt hypertensive treatment two weeks before. Collect,
centrifuge at +4°C within 30 min, decant and freeze plasma
immediately. Indicate whether the sample was taken after rest and
after walking.
Serum
0.5 mL Serum
4 days
Units: g/L
Resistance to activated protein C (aPCR)
Tube:
Requirement:
TAT:
Remarks:
Citrate (1+9)
7 days
Method: Immunoassay
Units: Ratio
Only one test in the cryotube.
Respiratopry screening (SX1)
Tube:
Requirement:
TAT:
Remarks:
Serum
0.5 mL Serum
3 days
Method: EIA
Includes G6, G12, T3, W6, D1, E1, E5, M2.
Units: kU/L
Respiratory syncitial virus
Tube:
Requirement:
TAT:
Reticulocytes
Serum
1 mL Serum
4 days
Tube:
Requirement:
EDTA
TAT:
3 days
Retinol
See: Vitamin A (retinol).
Remarks:
Method: Cytometry
Units: Titer
General catalogue
Retinol binding protein
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Units: mg/L
Reverse T3 (rT3)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
1 to 2 month Method: RIA
Units: nmol/L
Rheumatoid factor ELISA (IgM, IgA)
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Method: ELISA
Units: IU/mL
Rhumatoid factor (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Plain
0.1 mL Fluid
6 days
Method: Immunoturbidimetry Units: IU
This analysis is intended to aspirate-, synovial-, articular-, ascitic- or
pleural fluids. For the analysis in blood, refer to code 6510.
Rhumatoid factor (turbid.)
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
4 days
Riboflavine
See: Vitamin B2 (riboflavine)
Remarks:
Units: IU/mL
Rickettsia sp. (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Rifabutin
Method: IF
Tube:
Requirement:
Heparin
3 mL Heparin plasma
TAT:
3 weeks
Rifampicin
Tube:
Requirement:
Serum
2 mL Serum
TAT:
5 days
Method: HPLC
Units: mg/L
General catalogue
123
General catalogue
Risperidone + 9-OH-Risp.
General catalogue
124
124
Tube:
Requirement:
TAT:
Ritonavir
Tube:
Requirement:
TAT:
Rotavirus
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Units: µg/L
Tube:
Requirement:
Stool
1 g Stool
TAT:
6 days
Method: EIA
Rubella (IgG, IgM)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: EIA
Rubella IgG Avidity
Tube:
Requirement:
TAT:
Serum
1 mL Serum
7 days
Method: EIA
Units: %
Serum
1 mL Serum
4 days
Method: EIA
Units: IU/mL
Serum
1 mL Serum
2 weeks
Method: EIA
Units: µg/L
Rubella, immunity (IgG)
Tube:
Requirement:
TAT:
S 100 protein
Tube:
Requirement:
TAT:
Salicylates
Tube:
Requirement:
TAT:
Remarks:
Serum without gel
0.5 mL Serum
4 days
Method: EIA
Units: mmol/L
Collect sample 1 to 3 hours after taking the drug.
Salivary cortisol
Tube:
Requirement:
Plain
1 mL Saliva
TAT:
Remarks:
10 days
Method: Immunoluminescence
Sampling 3h after the meal without having made use of
toothbrush or chewing gum.
General catalogue
Tube:
Requirement:
TAT:
Remarks:
Plain
1 mL Saliva
10 days
Method: Immunoluminescence Units: nmol/L
Salivary estradiol
Tube:
Requirement:
TAT:
Remarks:
Plain
1 mL Saliva
10 days
Method: Immunoluminescence Units: pmol/L
Salivary progesterone
Tube:
Requirement:
TAT:
Remarks:
Plain
1 mL Saliva
10 days
Method: Immunoluminescence Units: pmol/L
Salivary testosterone
Tube:
Requirement:
TAT:
Remarks:
Salmonella
Tube:
Requirement:
TAT:
Saquinavir
Tube:
Requirement:
TAT:
SCC
Tube:
Requirement:
TAT:
Remarks:
Plain
1 mL Saliva
10 days
Method: EIA
Units: pmol/L
Serum
2 mL Serum
4 days
EDTA
1 mL EDTA plasma
7 days
Method: GC-FIC
Serum
1 mL Serum
8 days
Send frozen.
Method: EIA
Units: Titer
Units: µg/L
Units: µg/L
General catalogue
Salivary DHEA
125
General catalogue
Schistosomiasis
General catalogue
126
126
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: ELISA
Screening 1st trimester (Trisomy 21)
(10 3/7, 13 0/7 weeks of pregnancy)
Tube:
Requirement:
Serum
2 mL Serum
TAT:
Remarks:
5 days
Method: Immunoassay
Add clinical information on the form. Send frozen.
Screening 2nd trimester + AFP (15 0/7 to 18 6/7 weeks of pregnancy)
Tube:
Requirement:
Serum
2 mL Serum
TAT:
Remarks:
5 days
Add clinical information on the form. Send frozen.
Selenium (serum/plasma)
Tube:
Requirement:
Alternative:
TAT:
Serum
0.5 mL Serum
0.5 mL plasma from Vacutainer tube (K2 EDTA # 368381)
Royal blue top
5 days
Method: ICP-MS
Units: µmol/L
Serotonin (Urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Urine
10 mL 24h urine+HCL
7 days
Method: HPLC
Units: µmol/24h
Diet: avoid bananas, tomatoes, grapefruit, nuts, avocados, plums,
chocolate, dried fruit, citrus, tea and coffee 48 hours before
collection and collect on HCl (pH 2-3) at +4°C, indicate the volume
the time period.Send 10 mL frozen urine.
Serotonin (whole blood)
Tube:
Requirement:
TAT:
Sertraline
Tube:
Requirement:
TAT:
Heparin
7 days
Method: HPLC
Units: µg/L
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
General catalogue
Serum cocain (qn)
Tube:
Requirement:
Fluoride
2 mL Fluoride whole blood
TAT:
7 days
Method: GC-MS
Serum crosslaps
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Serum Iodine
Tube:
Requirement:
TAT:
EDTA
1 mL EDTA plasma
Serum
6 days
Method: ELISA
Send frozen.
Serum
2 mL Serum
10 days
Method: ICP-MS
Units: µg/L
Units: µg/L
Serum viscosity
Tube:
Requirement:
Serum
3 mL Serum
TAT:
5 days
Units: mPas/sec
Sex hormone binding globulin
Tube:
Requirement:
Alternative:
TAT:
Shigella
Tube:
Requirement:
TAT:
Sirolimus
Tube:
Requirement:
TAT:
Serum
1 mL Serum
5 days
Method: RIA
Units: nmol/L
Serum
1 mL Serum
7 days
Units: Titer
EDTA
5 days
Method: LC-MS
Sodium (urine 24h)
Tube:
Requirement:
TAT:
Remarks:
Units: µg/L
Urine
10 mL 24h urine
6 days
Method: ISE
Units: mmol/24h
General catalogue
127
General catalogue
Soluble Transferrin receptor
General catalogue
128
128
Tube:
Requirement:
TAT:
Streptomycin
Serum
1 mL Serum
3 days
Tube:
Requirement:
Serum
1 mL Serum
TAT:
10 days
Sulfonylurea
Units: mg/L
Method: LC-MS
Tube:
Requirement:
Alternative:
Serum
3 mL serum
3 mL heparin plasma
TAT:
Remarks:
2 weeks
Method:
Includes: Chlorpropamide, Tolbutamide,Tolazamide, Glipizide,
Gliclazide, Glibornuride, Glibenclamide, Glimepiride.
Sultiame
Tube:
Requirement:
TAT:
Serum without gel
1 mL Serum
7 days
Method: HPLC
Units: µmol/L
Superoxyde dismutase (SOD)
Tube:
Requirement:
TAT:
EDTA
7 days
Units: U/mL
Swiss tree mix (TX9)
Tube:
Requirement:
TAT:
Remarks:
Serum
50 µl Serum
5 days
Method: CAP®
Includes: alder, birch, hazel, oak, willow.
Syphilis FTA abs. Ig (IF)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: IF
Syphilis FTA abs. IgM (IF)
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Method: IF
Units: kU/l
General catalogue
Tube:
Requirement:
TAT:
Serum
0.5 mL Serum
3 days
Method: EIA
Units: Index
Syphilis, screening
Tube:
Requirement:
Serum
1 mL Serum
TAT:
Remarks:
3 days
Method: EIA, Agglutination
Syphilis screening contain Syphilis Ig (7162) and VDRL (7166).
Theophylline
Tube:
Requirement:
TAT:
Thrombin time
Serum
1 mL Serum
4 days
Method: Immunoassay
Tube:
Requirement:
Citrate
1 mL Citrate plasma, frozen.
TAT:
Remarks:
3 days
Units: µmol/l
Units: sec
Thyroglobulin (TRACE)
Tube:
Requirement:
Alternative:
Serum
TAT:
5 days
Remarks:
Tiagabine
Tube:
Requirement:
TAT:
Tiapride
Tube:
Requirement:
TAT:
Units: nmol/h/mg
protein
Method: Immunoassay
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: nmol/L
Serum
2 mL Serum
10 days
Units: µg/L
Method: GC-MS
Tick-borne encephalitis
Tube:
Requirement:
Serum
1 mL Serum
TAT:
6 days
Method: EIA
General catalogue
Syphilis Ig
129
General catalogue
Tick-borne encephalitis (PCR)
General catalogue
130
130
Tube:
Requirement:
EDTA
TAT:
Remarks:
7 days
Method: PCR
Warning: This is an analysis of molecular biology, not
of serology. Do not send serum.
TNF alpha
Tube:
Requirement:
TAT:
Tobramycin
Tube:
Requirement:
TAT:
Serum
1 mL Serum
10 days
Method: ELISA
Units: ng/L
Serum
0.5 mL Serum
4 days
Method: FPIA
Units: mg/mL
Tube:
Requirement:
TAT:
Serum without gel
3 mL Serum
4 days
Method: GC-MS
Units: µmol/L
Total amylase
See: Amylase (total).
Topiramate
Remarks:
Total amylase (urine 24h)
Remarks:
See : Amylase, total (urine 24h).
Total calcium
See: Calcium, total.
Remarks:
Total cholesterol
Remarks:
See: Cholesterol (total).
Total CK
Remarks:
See : CK, total.
Total estriol
Remarks:
See: Estriol, total.
Total HCG
See: HCG (total).
Remarks:
Total HCG (tumor marker: testicles)
Remarks:
See: HCG (total) (tumor marker: testicles).
General catalogue
Remarks:
Total proteins
Tube:
Requirement:
TAT:
See: IgE, total
Serum
0.5 mL Serum
4 days
Units: g/L
Total proteins (urine)
Tube:
Requirement:
Alternative:
TAT:
Total T3
Tube:
Requirement:
TAT:
Total T4
Tube:
Requirement:
TAT:
Spot urine
5 mL Spot urine
5 mL 24h urine
6 days
Units: mg/L
Serum
0.5 mL Serum
3 days
Method: Immunoassay
Units: pmol/L
Serum
0.5 mL Serum
3 days
Method: Immunoassay
Units: pmol/L
Total testosterone
Tube:
Requirement:
Alternative:
TAT:
Serum
0.2 mL Serum
3 days
Method: Immunoassay
Units: nmol/L
Total urinary porphyrin (urine)
Tube:
Requirement:
Urine
100 mL 24h urine
TAT:
Remarks:
10 days
Method: HPLC
store at + 4°C, away from light. For every 24h urine we add urinary
creatinine to control for the time period. Send 100 mL frozen urine,
protected from light.
Toxocarosis IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Method: ELISA
Units: Index
General catalogue
Total IgE
131
General catalogue
Toxoplasmosis DNA (PCR)
General catalogue
132
132
Tube:
Requirement:
Sterile
15 mL Amniotic Fluid
TAT:
7 days
Method: PCR
Toxoplasmosis IgG
Tube:
Requirement:
TAT:
Serum
1 mL Serum
3 days
Method: EIA
Units: IU/mL
Method: EIA
Units: %
Toxoplasmosis IgG Avidity
Tube:
Requirement:
TAT:
Serum
1 mL Serum
3 days
Toxoplasmosis IgG, IgM
Tube:
Requirement:
Serum
2 mL Serum
TAT:
3 days
Method: EIA
Toxoplasmosis IgM
Tube:
Requirement:
TAT:
Serum
1 mL Serum
3 days
Method: EIA
Units: Index
Toxoplasmosis, presence of immunity (IgG)
Tube:
Requirement:
TAT:
TPA/TPS
Tube:
Requirement:
TAT:
Remarks:
Tramadol
Tube:
Requirement:
TAT:
Transferrin
Tube:
Requirement:
Alternative:
TAT:
Serum
1 mL Serum
3 days
Serum
1 mL Serum
6 days
Send frozen.
Method: EIA
Units: IU/mL
Method: EIA
Units: U/L
Serum without gel
0.2 mL Serum
4 days
Method: LC
Units: µmol/L
Serum
0.5 mL Serum
3 days
Units: g/L
General catalogue
Tube:
Requirement:
TAT:
Serum without gel
0.2 mL Serum
4 days
Method: LC
Units: µmol/L
Treponema pallidum IgG WB
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
6 days
Method: WB
Treponema pallidum IgM WB
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
6 days
Triazolam
Tube:
Requirement:
TAT:
Remarks:
Trichinosis
Tube:
Requirement:
TAT:
Triglycerides
Tube:
Requirement:
TAT:
Method: WB
Serum
2 mL Serum
2 weeks
Method: HPLC
Units: nmol/L
Refrigerate immediately and keep the sample at 4°C.
Serum
1 mL Serum
4 days
Method: ELISA
Serum
0.2 mL Serum
3 days
Units: Index
Units: mmol/L
Triglycerides (puncture fluid)
Tube:
Requirement:
TAT:
Remarks:
Trimipramine
Tube:
Requirement:
TAT:
Plain
0.1 mL Fluid
6 days
Units: mmol/L
This analysis is intended to aspirate-, synovial-, articular-, ascitic- or
pleural fluids. The patient must be fasting for at least 14h.
Serum without gel
0.2 mL Serum
4 days
Method: HPLC
Units: µmol/L
General catalogue
Trazodone
133
General catalogue
Tropheryma whipplei (PCR)
General catalogue
134
134
Tube:
Requirement:
Alternative:
Plain
0.2 mL CSF
Plain
TAT:
Remarks:
7 days
Method: PCR
PCR tube or sterile tube or EDTA tube.
Troponin I
Tube:
Requirement:
Alternative:
TAT:
Trypsin
Tube:
Requirement:
TAT:
Remarks:
Valproate
Tube:
Requirement:
TAT:
Vanadium
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Vancomycin
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
5 days
Method: Immunoassay
Serum
1 mL Serum, frozen.
2 weeks
Method: RIA
Serum without gel
0.2 mL Serum
4 days
Method: EIA
Units: µg/L
Units: µg/L
Units: µmol/L
Heparin
3 weeks
Method: MS
Units: µg/L
The sample is taken in a special tube for metals.
Serum
0.4 mL Serum
4 days
Method: EIA
Units: mg/L
Taken prior to the start of the infusion and 30 min after
the end of infusion.
Vanilmandelate (VMA)
Tube:
Requirement:
Urine
10 mL 24h urine+HCL
TAT:
Remarks:
10 days
Method: HPLC
Diet: avoid bananas, tomatoes, grapefruit, nuts, avocados,
pineapples, plums and chocolate 48 hours before collection and
collect on HCl indicate the volume of 24h. For every 24h urine we
General catalogue
Varicella zona virus Ig (FC)
Tube:
Requirement:
TAT:
Serum
1 mL Serum
4 days
Units: Titer
Virus Chikungunya IgG + IgM
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
5 days
Visceral leishmaniosis Ig
Tube:
Requirement:
TAT:
Serum
1 mL Serum
5 days
Method: IF
Units: Titer
Vitamin A (retinol)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
5 days
Method: HPLC
Units: µmol/L
immediately. Keep protected from light.
Vitamin B1 (thiamin PP)
Tube:
Requirement:
TAT:
Remarks:
EDTA
6 days
Method: HPLC
Send frozen . Keep protected from light.
Units: µg/L
Vitamin B12 (cobalamin)
Tube:
Requirement:
TAT:
Serum
0.2 mL Serum
3 days
Method: Immunoassay
Units: pmol/L
Vitamin B2 (riboflavine)
Tube:
Requirement:
TAT:
Remarks:
EDTA
10 days
Method: HPLC
Send frozen . Keep protected from light.
Vitamin B5 (pantothenate)
Tube:
Requirement:
TAT:
Remarks:
Units: µg/L
Serum
2 mL Serum
2 weeks
Method: GC-MS
Units: µmol/L
General catalogue
135
General catalogue
Vitamin B6 (pyridoxal-P)
General catalogue
136
136
Tube:
Requirement:
TAT:
Remarks:
EDTA
5 days
Method: HPLC
Send frozen. Keep protected from light.
Units: µg/L
Vitamin C (ascorbate)
Tube:
Requirement:
TAT:
Remarks:
Heparin
5 days
Method: HPLC
Units: µmol/L
immediately.
Vitamin E (alpha-tocopherol)
Tube:
Requirement:
TAT:
Remarks:
Serum
1 mL Serum
6 days
Method: HPLC
Units: µmol/L
Vitamin H (Biotin)
Tube:
Requirement:
Alternative:
TAT:
Serum
3 mL Serum
3 mL heparin plasma
2 weeks
Method: EIA
Units: nmol/L
Vitamin K1 (phylloquinone)
Tube:
Requirement:
Alternative:
TAT:
Remarks:
Heparin
3 mL Heparin plasma
3 mL Serum
2 weeks
Method: HPLC
Units: µg/L
Allow to clot before centrifugation.Centrifuge at +4°C, decant
serum/plasma and freeze immediately. Keep protected from light.
Vitamin PP (niacin)
Tube:
Requirement:
EDTA
TAT:
Remarks:
2 weeks
VLDL (calculated)
Remarks:
See: Cholesterol VLDL
Units: µmol/L
General catalogue
Von Willebrand factor (antigen)
Tube:
Requirement:
Citrate (1+9)
TAT:
Remarks:
3 days
within 2 hours, freeze plasma .
Western Nile Fever (WNF) IgG
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Western Nile Fever (WNF) IgM
Tube:
Requirement:
Serum
1 mL Serum
TAT:
7 days
Waaler-Rose
Tube:
Requirement:
Serum
1 mL Serum
TAT:
4 days
Xylose (plasma)
Tube:
Requirement:
TAT:
Remarks:
Xylose (urine)
Tube:
Requirement:
TAT:
Remarks:
Fluoride
2 mL Fluoride plasma
10 days
Units: mmol/L
Urine
See requirements
10 days
Units: mmol/L
5 hour collection, indicate volumen, and collection time.
Freeze sample.
Yellow fever neutralizing Ab
Tube:
Requirement:
Serum
0.5 mL Serum
TAT:
7 days
Yersiniosis
Tube:
Requirement:
TAT:
Serum tube
1 mL Serum
4 days
Method: CF
Units: Titer
General catalogue
137
General catalogue
Zinc (plasma)
General catalogue
138
138
Tube:
Requirement:
TAT:
Trace element
5 days
Method: AAS
Units: µmol/L
Zinc (whole blood)
Tube:
Requirement:
TAT:
Remarks:
Trace element
3 days
Method: AAS
Plasma is clinically preferred.
Units: mg/L
Zinc protoporphyrin
Tube:
Requirement:
TAT:
Remarks:
Zolpidem
Tube:
Requirement:
TAT:
Zonisamide
Tube:
Requirement:
TAT:
Zopiclon
Heparin
4 days
Method: Fluorometry
Units: Hb
Serum without gel
0.2 mL Serum
4 days
Method: HPLC-MS
Units: µmol/L
Serum without gel
0.2 mL Serum
4 days
Method: HPLC-MS
Units: µmol/L
Tube:
Requirement:
Serum
1.2 mL Serum
TAT:
10 days
Units: nmol/L
Serum without gel
0.2 mL Serum
4 days
Method: LC-MS-MS
Units: nmol/L
Zuclopenthixol
Tube:
Requirement:
TAT:
Allergies and food
intolerances
Tests for allergies and food intolerances have been listed by categories. Within each
category are allergens in alphabetical order.
The following categories are listed here:
- Screening
- Bacteria
- Drugs
- Dust
- Food
- Food additives
- Grass pollen
- Grass pollen (Graminaceae)
- Insect, animal venoms
- Mites
- Parasites
- Professional environment
- Residues of animal origin
- Tree pollen
- Various allergens
- Yeasts, molds
- Combined allergens
- Food intolerances
Tests listed in this chapter are all performed with serum (1 mL for the first analysis and
0.2 mL for each further analysis). In the case of an air shipment, samples should be
frozen (in which case the stability is of 6 months).
M80
Staphylococcal enterotoxin A
Bacteria
M81
Staphylococcal enterotoxin B
Bacteria
M223
Staphylococcal enterotoxin C
Bacteria
M224
Staphylococcal enterotoxin D
Bacteria
M226
Staphylococcal enterotoxin TSST
Bacteria
EX72
Bird feathers mix
Combined allergens
FX3
Cereal mix
Combined allergens
PAX5
Chemical industry mix
Combined allergens
EX2
Dander mix
Combined allergens
Allergies and food intolerances
139
Allergies and food
intolerances
140
140
3. Test list
PAX6
Disinfectant mix
Combined allergens
EX1
Epidermal mix
Combined allergens
EX73
Feathers mix
Combined allergens
EX71
Feathers mix
Combined allergens
FX2
Fishes mix
Combined allergens
FX74
Fishes mix
Combined allergens
PAX4
Food industry mix
Combined allergens
FX8
Food mix
Combined allergens
FX10
Food mix
Combined allergens
FX18
Food mix
Combined allergens
FX20
Food mix
Combined allergens
FX24
Food mix
Combined allergens
FX26
Food mix
Combined allergens
FX27
Food mix
Combined allergens
FX28
Food mix
Combined allergens
FX7
Food mix
Combined allergens
FX17
Fruit mix
Combined allergens
FX9
Fruit mix
Combined allergens
FX21
Fruit mix
Combined allergens
FX15
Fruit mix
Combined allergens
FX16
Fruit mix
Combined allergens
GX1
Grass Pollen mix
Combined allergens
GX2
Grass Pollen mix
Combined allergens
GX6
Grass Pollen mix
Combined allergens
PAX1
Hairs and feathers mix
Combined allergens
PAX3
House dust and insect mix
Combined allergens
HX2
House dust mix
Combined allergens
FX23
Meat mix
Combined allergens
FX73
Meat mix
Combined allergens
TX7
Mediterranean tree mix
Combined allergens
TX8
Combined allergens
FX31
Fruit mix
Combined allergens
FX1
Nut mix
Combined allergens
FX22
Nut mix
Combined allergens
WX1
Plant mix
141
Combined allergens
WX2
Plant mix
Combined allergens
WX3
Plant mix
Combined allergens
WX5
Plant mix
Combined allergens
WX6
Plant mix
Combined allergens
WX7
Plant mix
Combined allergens
EX70
Rodent epithelia mix
Combined allergens
FX72
Spice mix
Combined allergens
FX71
Spice mix
Combined allergens
FX70
Spice mix
Combined allergens
FX25
Spice mix
Combined allergens
TX3
Tree mix
Combined allergens
TX1
Tree mix
Combined allergens
TX2
Tree mix
Combined allergens
TX4
Tree mix
Combined allergens
TX5
Tree mix
Combined allergens
TX6
Tree mix
Combined allergens
TX9
Tree mix
Combined allergens
TX10
Tree mix
Combined allergens
FX30
Tropical fruit mix
Combined allergens
FX19
Vegetable mix
Combined allergens
FX14
Vegetable mix
Combined allergens
FX13
Vegetable mix
Combined allergens
FX12
Vegetable mix
Combined allergens
FX11
Vegetable mix
Combined allergens
W209
w1, w2, w3 ( weed mix)
Combined allergens
C206
ACTH
Drugs
C6
Amoxicillin
Drugs
C5
Ampicillin IgE
Drugs
C7
Cefaclor, cephalosporin
Drugs
C8
Chlorhexidine
Drugs
C209
Chymopapain
Drugs
C305
Clavulanic acid
Drugs
C300
Codein IgE
Drugs
C74
Gelatin, bovine
Drugs
C299
Heparin
Drugs
Allergies and food
intolerances
Allergies and food
intolerances
142
142
C71
Insulin, bovine
Drugs
C73
Insulin, human
Drugs
C70
Insulin, porcine
Drugs
C1
Penicillin G
Drugs
C2
Penicillin V
Drugs
C207
Protamine
Drugs
C223
Sulfamethoxazol
Drugs
C202
Suxamethonium
Drugs
C208
Tetanus toxoid
Drugs
C242
Trimethoprim
Drugs
H1
Greer laboratory
Dust
H2
Hollister-Stier laboratory
Dust
F346
Abalone
Food
F339
Allspice
Food
F20
Almond
Food
F272
Alpha-Galactosidase, leucocytes
Food
F76
Alpha-lactalbumin
Food
F313
Anchovy
Food
F271
Anise
Food
F49
Apple
Food
F237
Apricot
Food
F261
Asparagus
Food
F96
Avocado
Food
F51
Bamboo shoot
Food
F92
Banana
Food
F6
Barley
Food
F269
Basil
Food
F278
Bay leaf
Food
F27
Beef
Food
F319
Beet
Food
F77
Beta-lactoglobulin
Food
F280
Black pepper
Food
F211
Blackberry
Food
F356
Blackcurrant
Food
F37
Blue mussel
Food
F310
Blue vetch
143
Food
F288
Blueberry
Food
F334
Bovine lactoferrin
Food
F18
Brazil nut
Food
F260
Broccoli
Food
F217
Brussels sprouts
Food
F11
Buckwheat
Food
F216
Cabbage
Food
F93
Cacao
Food
F295
Carambola
Food
F265
Caraway
Food
F267
Cardamom
Food
F296
Carob
Food
F31
Carrot
Food
F78
Casein, Milk
Food
F202
Cashew nut
Food
F291
Cauliflower
Food
F85
Celery
Food
F81
Cheese, cheddar type
Food
F82
Cheese, mold type
Food
F242
Cherry
Food
F309
Chick pea
Food
F83
Chicken
Food
F279
Chilipepper
Food
F50
Chub mackerel
Food
F220
Cinnamon
Food
F207
Clam
Food
F268
Clove
Food
F340
Cochineal extract (Carmine red) (E120)
Food
F36
Coconut
Food
F3
Cod
Food
F221
Coffee
Food
F55
Common millet
Food
F323
Conalbumin
Food
F317
Coriander
Food
Allergies and food
intolerances
Allergies and food
intolerances
144
144
F2
Cow milk
Food
F231
Cow milk, boiled
Food
F236
Cow's whey
Food
F23
Crab
Food
F341
Cranberry
Food
F320
Crayfish
Food
F244
Cucumber
Food
F281
Curry (Santa Maria)
Food
F289
Date
Food
F277
Dill
Food
F264
Eel
Food
F75
Egg yolk
Food
F245
Egg, whole
Food
F262
Eggplant
Food
F1
Eggwhite
Food
F219
Fennel seed
Food
F276
Fennel, fresh
Food
F305
Fenugreek
Food
F328
Fig
Food
F56
Foxtail millet
Food
F212
Fungus
Food
F47
Garlic
Food
F270
Ginger
Food
F79
Gluten
Food
F300
Goat milk
Food
F259
Grape
Food
F209
Grapefruit
Food
F315
Green bean
Food
F263
Green pepper (unripe seed)
Food
F246
Guar gum (E412)
Food
F292
Guava
Food
F297
Gum arabic (E414)
Food
F307
Hake
Food
F303
Halibut
Food
F17
Hazelnut
Food
F205
Herring
145
Food
F247
Honey
Food
F324
Hop (fruit cone)
Food
F321
Horse meat
Food
F318
Jack fruit
Food
F60
Jack mackerel, Scad
Food
F57
Japanese millet
Food
F336
Jujube
Food
F84
Kiwi
Food
F304
Langust
Food
F208
Lemon
Food
F235
Lentil
Food
F215
Lettuce
Food
F306
Lime
Food
F333
Linseed
Food
F348
Litchi
Food
F80
Lobster
Food
F275
Lovage
Food
F335
Lupin seed
Food
F345
Macadamia nut
Food
F266
Mace
Food
F206
Mackerel
Food
F8
Maize/corn
Food
F90
Malt
Food
F302
Mandarin (tangerine)
Food
F91
Mango
Food
F286
Mare's milk
Food
F274
Marjoram
Food
F311
Megrim
Food
F87
Melon
Food
F228
Milk powder Alfare®-Nestle®
Food
F332
Mint
Food
F285
Moose meat
Food
F89
Mustard
Food
F88
Mutton
Food
Allergies and food
intolerances
Allergies and food
intolerances
146
146
F282
Nutmeg
Food
F7
Oat
Food
F59
Octopus
Food
F342
Olive (black, fresh)
Food
F48
Onion
Food
F33
Orange
Food
F283
Oregano
Food
F233
Orosomucoid
Food
F232
Ovalbumin
Food
F290
Oyster
Food
F58
Pacific squid
Food
F293
Papaya
Food
F218
Paprika (sweet pepper)
Food
F86
Parsley
Food
F294
Passion fruit
Food
F12
Pea
Food
F95
Peach
Food
F13
Peanut
Food
F94
Pear
Food
F201
Pecan nut
Food
F301
Persimon (kaki fruit)
Food
F253
Pine nut
Food
F210
Pineapple
Food
F203
Pistachio
Food
F254
Plaice
Food
F255
Plum
Food
F224
Poppy seed
Food
F26
Pork
Food
F35
Potato
Food
F225
Pumpkin
Food
F226
Pumpkin seed
Food
F347
Quinoa
Food
F213
Rabbit meat
Food
F119
Radish
Food
F204
Rainbow trout
Food
F316
Rape seed
147
Food
F343
Raspberry
Food
F287
Red bean
Food
F322
Red currant
Food
F9
Rice
Food
F330
Rose hip
Food
F416
rTri a 19 Omega-5 Gliadin, Wheat
Food
F5
Rye
Food
F331
Saffron
Food
F344
Sage
Food
F41
Salmon
Food
F308
Sardine (pilchard)
Food
F338
Scallop
Food
F10
Sesame seed
Food
F325
Sheep milk
Food
F326
Sheep whey
Food
F24
Shrimp
Food
F314
Snail
Food
F337
Sole
Food
F14
Soya bean
Food
F124
Spelt wheat
Food
F214
Spinach
Food
F258
Squid
Food
F44
Strawberry
Food
F227
Sugar beet (seed)
Food
F299
Sweet chestnut
Food
F54
Sweet potato
Food
F312
Swordfish
Food
F222
Tea
Food
F273
Thyme
Food
F25
Tomato
Food
F298
Tragacanth (E413)
Food
F40
Tuna
Food
F284
Turkey meat
Food
F234
Vanilla
Food
Allergies and food
intolerances
Allergies and food
intolerances
148
148
F256
Walnut
Food
F329
Watermelon
Food
F4
Wheat
Food
F15
White bean
Food
F45
Yeast
Food
F118
Zucchini
C712
Sodium sulfite
Food
Food additives
F20G
Anti-Almond, IgG
Food intolerances
F76G
Anti-Alpha-lactalbumin, IgG
Food intolerances
F49G
Anti-Apple, IgG
Food intolerances
F92G
Anti-Banana, IgG
Food intolerances
F6G
Anti-Barley, IgG
Food intolerances
F27G
Anti-Beef, IgG
Food intolerances
F77G
Anti-Beta-lactoglobulin, IgG
Food intolerances
F11G
Anti-Buckwheat, IgG
Food intolerances
F216G
Anti-Cabbage, IgG
Food intolerances
F93G
Anti-Cacao, IgG
Food intolerances
F31G
Anti-Carrot, IgG
Food intolerances
F78G
Anti-Casein, Milk, IgG
Food intolerances
F202G
Anti-Cashew nut, IgG
Food intolerances
F85G
Anti-Celery, IgG
Food intolerances
F83G
Anti-Chicken, IgG
Food intolerances
F3G
Anti-Cod, IgG
Food intolerances
F221G
Anti-Coffee, IgG
Food intolerances
F317G
Anti-Coriander, IgG
Food intolerances
F75G
Anti-Egg yolk, IgG
Food intolerances
F245G
Anti-Egg, whole, IgG
Food intolerances
F1G
Anti-Eggwhite, IgG
Food intolerances
F212G
Anti-Fungus, IgG
Food intolerances
F47G
Anti-Garlic, IgG
Food intolerances
F79G
Anti-gluten, IgG
Food intolerances
F300G
Anti-Goat milk, IgG
Food intolerances
F259G
Anti-Grape IgG
Food intolerances
F17G
Anti-Hazelnut, IgG
Food intolerances
F84G
Anti-kiwi, IgG
Food intolerances
F235G
Anti-Lentil, IgG
149
Food intolerances
F335G
Anti-Lupin seed, IgG
Food intolerances
F8G
Anti-Maize/corn, IgG
Food intolerances
F87G
Anti-Melon IgG
Food intolerances
F89G
Anti-Mustard, IgG
Food intolerances
F7G
Anti-Oat, IgG
Food intolerances
F48G
Anti-Onion, IgG
Food intolerances
F33G
Anti-Orange, IgG
Food intolerances
F218G
Anti-Paprika (sweet pepper) IgG
Food intolerances
F95G
Anti-Peach, IgG
Food intolerances
F13G
Anti-Peanut, IgG
Food intolerances
F94G
Anti-Pear, IgG
Food intolerances
F201G
Anti-Pecan nut, IgG
Food intolerances
F210G
Anti-Pineapple, IgG
Food intolerances
F203G
Anti-Pistachio, IgG
Food intolerances
F26G
Anti-Pork, IgG
Food intolerances
F35G
Anti-Potato, IgG
Food intolerances
F213G
Anti-Rabbit, IgG
Food intolerances
F9G
Anti-Rice, IgG
Food intolerances
F5G
Anti-Rye, IgG
Food intolerances
F41G
Anti-salmon, IgG
Food intolerances
F308G
Anti-Sardine (pilchard), IgG
Food intolerances
F10G
Anti-Sesame seed, IgG
Food intolerances
F325G
Anti-Sheep milk, IgG
Food intolerances
F14G
Anti-Soya bean, IgG
Food intolerances
F214G
Anti-Spinach, IgG
Food intolerances
F44G
Anti-Strawberry, IgG
Food intolerances
F227G
Anti-Sugar beet (seed), IgG
Food intolerances
F222G
Anti-Tea, IgG
Food intolerances
F25G
Anti-Tomato, IgG
Food intolerances
F40G
Anti-tuna, IgG
Food intolerances
F256G
Anti-Walnut, IgG
Food intolerances
F4G
Anti-Wheat, IgG
Food intolerances
F45G
Anti-Yeast, IgG
Food intolerances
F280G
Black pepper, IgG
Food intolerances
Allergies and food
intolerances
Allergies and food
intolerances
150
150
W14
Amaranth
Grass pollen
W206
Chamomilla
Grass pollen
W13
Cocklebur
Grass pollen
W1
Common ragweed
Grass pollen
W8
Dandelion
Grass pollen
W4
False ragweed
Grass pollen
W17
Firebush (Kochia)
Grass pollen
W3
Giant ragweed
Grass pollen
W12
Goldenrod
Grass pollen
W10
Goosefoot (lamb's quarters)
Grass pollen
W55
Lavender
Grass pollen
W15
Lenscale
Grass pollen
W207
Lupin
Grass pollen
W7
Marguerite, Ox-eye daisy
Grass pollen
W6
Mugwort
Grass pollen
W230
nAmb a 1 Ragweed (recombinant)
Grass pollen
W231
nArt v 1 Mugwort (recombinant)
Grass pollen
W20
Nettle
Grass pollen
W203
Rape
Grass pollen
W9
Ribwort (English plantain)
Grass pollen
W16
Rough marshelder
Grass pollen
W211
rPar j 2 (recombinant)
Grass pollen
W11
Saltwort
Grass pollen
W18
Sheep sorrel
Grass pollen
W210
Sugar beet
Grass pollen
W204
Sunflower
Grass pollen
W21
Wall pellitory (Parietaria judaica)
Grass pollen
W19
Wall pellitory (Parietaria officinalis)
Grass pollen
W2
Western ragweed
Grass pollen
W5
Wormwood (absinthe)
G17
Bahia grass
Grass pollen (Graminaceae)
Grass pollen
G201
Barley (pollen)
G9
Bent grass (agrostis tenuis)
G2
Bermuda grass
G11
Brome grass
151
G71
Canary grass
G3
Cocksfoot
G7
Common reed
G202
Corn
G12
Cultivated Rye
G15
Cultivated wheat
G204
False oat-grass
G10
Johnson grass
G4
Meadow fescue
G16
Meadow Foxtail
G8
Meadow grass
G14
Oat
G205
rPhl p 1 (Thimoty)
G213
rPhl p 1, rPhl p 5b (Thimoty)
G211
rPhl p 11 (Thimoty)
G212
rPhl p 12 , profilin (Thimothy)
G206
rPhl p 2 (Thimothy)
G208
rPhl p 4 (Thimothy)
G215
rPhl p 5b (Thimothy)
G209
rPhl p 6 (Thimothy)
G210
rPhl p 7
G214
rPhl p 7, rPhl p 12 (Thimothy)
G5
Rye-grass
G203
Salt grass
G1
Sweet vernal grass
G6
Timothy grass
G13
Velvet grass
G70
Wild rye grass
I1
Bee
Insect, animal venoms
I76
Berlin beetle
I73
Blood worm
I205
Bumblebee
I206
Cockroach, American
I6
Cockroach, German
I207
Cockroach, Oriental
Allergies and food
intolerances
Allergies and food
intolerances
152
152
I3
Common wasp (Yellow jacket)
I75
European hornet
I70
Fire ant
I202
Grain weevil
I72
Green nimitti
I201
Horsefly
I204
Horsefly
I203
Mediterranean flour moth (ephestia)
I71
Mosquito
I8
Moth
I4
Paper wasp (poliste)
I208
rApi m 1 (Bee, recomb.)
I209
rVes v 5 (Wesp, recomb.)
I2
White-faced hornet
I5
Yellow hornet
D70
Acarus siro (storage mite)
Mites
D3
Dermatoph. microceras
Mites
D1
Dermatoph. pteronyssinus
Mites
D2
Dermatophagoides farinae
Mites
D74
Euroglyphus maynei
Mites
D73
Glycyphagus domesticus
Mites
D201
House Dust Mite
Mites
D71
Lepidoglyphus destructor
Mites
SX1+
Sx1 Allergènes détaillés
Mites
D72
Tyrophagus putrescentiae
Mites
P4
Anisakis
Parasites
P1
Ascaris
Parasites
P2
Echinococcus
K212
Abachi wood dust
Professional environment
Parasites
K205
Alkalase
K87
Alpha-amylase
K214
Bougaivillea
K202
Bromelin, pineapple
K71
Castor bean
K85
Chloramine T
153
K83
Cotton seed
K78
Ethylene oxide
K81
Ficus
K80
Formaldehyde
K70
Green coffee bean
K209
Hexahydrophtalic anhydride
K77
Isocyanate HDI
K76
Isocyanate MDI
K75
Isocyanate TDI
K72
Ispaghula
K82
Latex
K208
Lysozyme
K210
Maleic anhydride
K204
Maxatase
K211
Methyltetrahydrophtalic anhydride
K201
Papain
K213
Pepsin
K203
Phospholipase
K79
Phtalic anhydride
K215
rHev b 1 (Latex, recomb.)
K224
K217
K218
rHev b 5
K219
rHev b 6.01
K220
rHev b 6.02 (Latex, recomb.)
K221
rHev b 8, profiline (Latex, recomb.)
K222
K206
Savinase
K74
Silk
K73
Silk waste
K84
Sunflower seed
K86
Trimelitic anhydride
E5G
Anti-Dog dander IgG
Residues of animal origin
E77
Budgerigar droppings
E78
Budgerigar feathers
Allergies and food
intolerances
Allergies and food
intolerances
154
154
E79
Budgerigar serum proteins
E200
Canary bird (excrements)
E201
Canary bird (feathers)
E1
Cat dander
E220
Cat serum albumin
E218
Chicken droppings
E85
Chicken feathers
E219
Chicken serum proteins
E208
Chinchilla epithelium
E204
Cow, albumin
E4
Cow, dander
E216
Deer epithelium
E5
Dog dander
E221
Dog serum albumin
E86
Duck (feathers)
E217
Ferret epithelium
E214
Finch feathers
E210
Fox (epithelium)
E209
Gerbil epithelium
E80
Goat epithelium
E70
Goose feathers
E6
Guinea pig epithelium
E84
Hamster epithelium
E3
Horse dander
E205
Horse serum albumin
E203
Mink (epithelia)
E88
Mouse
E71
Mouse (epithelia)
E72
Mouse (serum proteins)
E76
E213
Parrot feathers
E83
Pig epithelium
E222
Pig serum albumin
E212
Pig urine proteins
E7
Pigeon droppings
155
E215
Pigeon feathers
E82
Rabbit (epithelia)
E206
Rabbit (serum proteins)
E211
Rabbit (urinary proteins)
E73
Rat epithelium
E87
Rat epithelium, serum and urine
E75
Rat serum proteins
E74
Rat urine proteins
E202
Reindeer (epithelium)
E81
Sheep (epithelium)
E89
Turkey feathers
FAS32
Food screening
Screening
RX5
Mix
Screening
RX2
Perannual mix
Screening
PHA
Phadiatop (Inhalation Screen)
Screening
PHAP
Phadiatop pédiatrique
Screening
RX3
Pollen mix
Screening
RX4
Pollen mix
Screening
RX
Respiratory allergy
Screening
RAS25
Respiratory Screening
Screening
RX1
Seasonal mix
T19
Acacia mimosa (golden wattle)
Tree pollen
Screening
T5
American beech
Tree pollen
T73
Australian pine
Tree pollen
T3
Birch (common silver)
Tree pollen
T212
Cedar
Tree pollen
T206
Chestnut
Tree pollen
T14
Cottonwood
Tree pollen
T214
Date tree
Tree pollen
T207
Douglas fir
Tree pollen
T205
Elder
Tree pollen
T8
Elm
Tree pollen
T18
Eucalyptus, Gum-tree
Tree pollen
T25
European ash
Tree pollen
T2
Grey alder
Tree pollen
Allergies and food
intolerances
Allergies and food
intolerances
156
156
T4
Hazel
Tree pollen
T22
Hickory (pecan)
Tree pollen
T209
Horn beam
Tree pollen
T203
Horse chestnut
Tree pollen
T23
Italian/Mediterranean/Funeral cypress
Tree pollen
T17
Japanese cedar
Tree pollen
T250
Lilac
Tree pollen
T208
Linden
Tree pollen
T211
Liquidambar
Tree pollen
T1
Maple
Tree pollen
T11
Maple leaf sycamore
Tree pollen
T21
Melaleuca
Tree pollen
T6
Mountain Juniper
Tree pollen
T70
Mulberry
Tree pollen
T224
nOle e 1 Olive, recombinant
Tree pollen
T7
Oak
Tree pollen
T9
Olive
Tree pollen
T72
Palm tree
Tree pollen
T219
Paloverde
Tree pollen
T217
Peppertree
Tree pollen
T213
Pine
Tree pollen
T210
Privet
Tree pollen
T20
Prosopis
Tree pollen
T215
rBet v 1 PR-10, Birch pollen, recombinant
Tree pollen
T216
rBet v 2 Profilin, Birch pollen, recombinant
Tree pollen
T221
rBet v 2, rBet v 4 Birch pollen, recombinant
Tree pollen
T220
rBet v 4 Birch pollen, recombinant
Tree pollen
T201
Spruce
Tree pollen
T242
Thuja
Tree pollen
T218
Virginia live oak
Tree pollen
T10
Walnut pollen
Tree pollen
T15
White ash
Tree pollen
T16
White pine
Tree pollen
T12
Willow
O202
Artemia salina, fish feed
Tree pollen
Various allergens
O1
Cotton (crude fibers)
157
Various allergens
O207
Daphnia, fish feed
Various allergens
O211
Mealworm
Various allergens
O70
Seminal fluid
Various allergens
O203
Tetramine
Various allergens
O201
Tobacco leaf
Various allergens
M6
Alternaria alternata
Yeasts, molds
M228
Aspergillus flavus IgE
Yeasts, molds
M3
Aspergillus fumigatus
Yeasts, molds
M207
Aspergillus niger IgE
Yeasts, molds
M36
Aspergillus terreus IgE
Yeasts, molds
M12
Aureobasidium pullulans
Yeasts, molds
M7
Botrytis cinerea
Yeasts, molds
M5
Candida albicans
Yeasts, molds
M5G
Candida albicans IgG
Yeasts, molds
M202
Cephalosporium acremonium
Yeasts, molds
M208
Chaetomium globosum
Yeasts, molds
M2
Cladosporium herbarum
Yeasts, molds
M16
Curvularia lunata
Yeasts, molds
M14
Epicoccum purpurascens
Yeasts, molds
M9
Fusarium proliferatum (F. moniliforme)
Yeasts, molds
M70
Malassezia furfur
Yeasts, molds
MX1
Mold mix
Yeasts, molds
MX2
Mold mix
Yeasts, molds
M4
Mucor racemosus
Yeasts, molds
M1
Penicillium chrysogenum
Yeasts, molds
M209
Penicillium glabrum
Yeasts, molds
M13
Phoma betae
Yeasts, molds
M229
rAlt a 1 (recombinant)
Yeasts, molds
M218
rAsp f 1 (recombinant)
Yeasts, molds
M219
Yeasts, molds
M220
Yeasts, molds
M221
Yeasts, molds
M222
Yeasts, molds
M11
Rhizopus nigricans
Yeasts, molds
Allergies and food
intolerances
Allergies and food
intolerances
158
158
M8
Setomelanomma rostrata
Yeasts, molds
M10
Stemphylium herbarum
Yeasts, molds
M201
Tilletia tritici
Yeasts, molds
M15
Trichoderma viride
Yeasts, molds
M210
Trichophyton ment. Goetzii var
Yeasts, molds
M211
Trichophyton ment. interdigitalis var
Yeasts, molds
M205
Trichophyton rubrum
Yeasts, molds
M203
Trichosporon pullulans
Yeasts, molds
M204
Ulocladium chartarum
Yeasts, molds
Here at Unilabs we understand the importance of making the right choice of provider
for histopathology and cytopathology services, particularly in the cancer pathway.
We pride ourselves on providing a high-quality diagnostic service led by teams of
specialist consultant pathologists. Our turnaround times are unrivalled and as a
CPA accredited laboratory, we have a strong track-record in quality and clinical
governance.
Unilabs is a major provider of diagnostic cellular pathology services to general
practitioners, private acute hospitals and corporate organizations. Holding full
unconditional CPA Accreditation (reference number 2380), Unilabs offers a
comprehensive range of investigations including histopathology, cytopathology,
and immunohistochemistry.
Our service is led by a team of highly experienced consultant pathologists, with many
years of experience serving both the public and independent sectors.
Most of our consultants hold substantive appointments in teaching hospitals in the
United Kingdom. Due to these close links with academic institutions, we have ready
access to specialty areas, including more esoteric fields including neuropathology, and
ophthalmic and bone pathology.
Key elements of the Unilabs’ service
• High quality service led by experienced UK pathologists.
• Highcaliber technical, clerical and customer service teams.
• Full range of diagnostic cellular pathology services.
• Wet specimens, tissue blocks or prepared slides accepted.
• Pathologists available for advice and discussion of cases.
• Responsive and bespoke service focused on clients’ requirements.
• Rapid turnaround times.
Quality
Unilabs is one of the few independent diagnostic providers that are registered with
the Care Quality Commission (CQC).
Unilabs provides high quality services to industry standard as measured against the
independent healthcare industry and the National Health Service in England. We
are fully CPA accredited (reference number 2380) and participate in all relevant EQA
schemes.
Unilabs Biomedical scientists are registered with the HPC and all medical laboratory
assistants are supervised. Cytoscreeners are either HPC registered or have the
certificate of competence. Consultant pathologists are appropriately qualified
(FRCPath) and are registered with the General Medical Council, Royal College of
Pathologists and other relevant professional bodies.
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Anatomic pathology
Anatomic pathology
Anatomic pathology
Anatomic pathology
160
160
Breast pathology
Dr Valerie Thomas - St George’s Healthcare NHS Trust
Dr Mihir Gudi - Imperial College NHS Trust
Dr Nuzhat Akbar - King’s College Hospital NHS Foundation Trust
Dr James Carton - Imperial College NHS Trust
Dr Paul Cane - Guy’s & St Thomas’ NHS Foundation Trust
Dermatopathology
Dr Nick Francis - Imperial College NHS Trust
Dr Andrew Gallimore - University College Hospital London NHS Foundation Trust
Gynaecology
Dr Martin Young - Royal Free London NHS Foundation Trust
Dr Rupali Arora - University College Hospital London NHS Foundation Trust
Dr Ashish Chandra - Guy’s & St Thomas’ NHS Foundation Trust
Dr Roberto Dina - Imperial College NHS Trust
Dr Mihir Gudi - Imperial College NHS Trust
Subspecialties
Gastrointestinal pathology
Prof. Marco Novelli - University College Hospital London NHS Foundation Trust
Prof. Roger Feakins - Royal Free London NHS Foundation Trust
Dr Manuel Rodriguez-Justo - University College Hospital London NHS Foundation Trust
Dr Alison Winstanley - University College Hospital London NHS Foundation Trust
Urology
Dr Ashish Narula - Ealing Hospital NHS Trust
Head and neck pathology / ent / thyroid
Dr Roberto Dina - Imperial College NHS Trust
Dr Mufaddal Moonim - Guy’s & St Thomas’ NHS Foundation Trust
Dr Ezra Nigar - The North West London Hospitals NHS Trust
Cardio-thoracic
Dr Paul Cane - Guy’s & St Thomas’ NHS Foundation Trust
Dr Emma McLean - Guy’s & St Thomas’ NHS Foundation Trust
Brain and muscle biopsies
Dr Safa Al-Sarraj - King’s College Hospital NHS Foundation Trust
Haematopathology / lymphoma
Dr Alan Ramsay - University College Hospital London NHS Foundation Trust
Dr Mufaddal Moonim - Guy’s & St Thomas’ NHS Foundation Trust
Tumour pathology, soft tissues
Prof. Cyril Fisher - The Royal Marsden NHS Foundation Trust
Customer service
For any question related to our Anatomic Pathology services, please contact us at:
[email protected]
2. Specimens
a) Specimen collection and handling
All histopathology and cytopathology specimens need to be submitted with
a request form.
Histology specimen
Immediately after removal, the patient’s tissue sample should be placed inside an
appropriately sized histology container (containing 10% Neutral Buffered Formalin)
to avoid damage to the specimen. Ensure the lid has been securely tightened to avoid
spillage during transportation.
It is not necessary to refrigerate the specimen if it is in formalin.
Ensure the appropriately sized container is used and that the specimen is fully
immersed in formalin. Bouin’s solution should be used for testicular biopsies and
Michel’s medium for skin specimens requiring immunofluorescence. Gross specimens
from reported cases will be discarded after five weeks according to current
guidelines. However, some additional tests may be possible on material subsequently
retained indefinitely.
b) Specimen packaging
Most cellular pathology specimens are generally classified ‘Biological Substance,
Category B’ and should be handled and packaged in accordance with UN3373
regulations.
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162
Any sample that is to be transported to Unilabs for diagnostic purposes must
adhere to the following instructions for packaging.
i. Primary packaging
A specimen container or ‘specimen pot’ should be of relevant size to the specimen
and contain the appropriate fixative. Ensure that the lid is securely tightened to
avoid leakage during transportation.
ii. Secondary packaging
A polythene bag provides the secondary packaging layer into which the specimen
container is placed. There should be absorbent tissue paper within this bag to
soak up any leakage that could occur. This bag will need to be sealed and the
corresponding request form placed into the outer side pocket of the bag.
c) Specimen processing
Specimens are described macroscopically and tissue samples selected during
surgical cut-up carried out by a consultant pathologist or competent biomedical
scientist (BMS). The aim of processing is to remove water from tissue and replace
with a medium (paraffin wax) that solidifies to allow thin sections to be cut.
Embedding, cutting and staining
Once tissues are embedded into hardened wax blocks, thin sections can be cut
using a ‘microtome’. The slides are routinely stained with H&E (hematoxylin and
eosin) and cover-slipped. Increasingly, immunohistochemistry (IHC) stains are
also used to demonstrate the presence of specific antigens in tissue sections
to aid diagnosis.
Mutational analysis may also be used to support diagnosis and treatment.
3. Request forms
In order to comply with CPA Standards E2.1, E2.2 the following information is
required on all request forms:
• Surname.
• Forename.
• Hospital number.
• Date of birth.
• Date and time of specimen collection.
• Name of consultant.
• Location to which results are to be sent.
• Origin / type of specimen.
• Clinical details / investigation requested.
The patient details should be clear on the specimen container. It is essential to
complete the forms as accurately and legibly as possible. Poorly written or illegible
forms are more likely to result in errors and delayed result reporting.
SAMPLES OR REQUEST FORMS RECEIVED UNLABELED OR WITHOUT THE MINIMUM
ESSENTIAL IDENTIFICATION CRITERIA MAY BE REFERRED BACK TO THE REQUESTING
PRACTITIONER.
It is important to provide all relevant clinical data and history to allow for accurate
reporting and advice of patient management. Any slides or samples should be labeled
with full name and date of birth.
Ensure that the appropriate contact details for the requesting clinician are recorded
on the request form so that the latter may be contacted once the results are ready.
Examples of Histology and Cytology request forms:
87329 Cyto blank:87329 blank cyto
17/1/11
07:02
Page 1
Cytology
IHS
P L E A S E
P R I N T
C L E A R L Y
Patient’s Surname
Room No. or Dept
Title and Other Names
Nature of Specimens
/Sex
Date of Birth
Hospital No.
Consultant’s Name(s)
Date and Time of Specimen
Clinical Details
Please tick appropriate box to ensure
required billing procedure
GYNAECOLOGICAL CYTOLOGY
cobas® CHLAMYDIA
THINPREPTM (TP) VIAL
GONORRHOEA
Gold Standard TPTM PAP,
cobas® HPV*, cobas® Chlamydia
TPTM PAP, cobas® HPV*
COMBINATION
TPTM PAP
cobas® HPV*
GONORRHOEA
*High risk panel plus 16 & 18 genotyping
Digital Pathology Image (please tick)
LMP
Previous Histology/Cytology No. (if relevant)
Patient
SWAB (cobas® PCR media)
CHLAMYDIA
Cervix visualised (please tick)
Last Smear Test
Post Natal
Irregular Bleeding
Post Menopause
Hysterectomy
Discharge
Pregnant
IUCD
Erosion/Cervicitis
HRT
O/C
Suspicious Cervix
Menopause
Consultant’s Signature
Dr
Insurance Details (PMI)
GONORRHOEA
HPV FULL SUBTYPING
360 degree sweep (please tick)
Invoice to Insurer
URINE (cobas® PCR media)
CHLAMYDIA
Address for Invoice (Patient)
Tel: 020 7299 4490 Fax: 020 7299 4491
20.Histo_blank:20.Histo_blank
28/8/08
IHS
Room No. or Dept
Nature of Specimens
10:34
Page 1
Histology
Patient’s Surname
P L E A S E
Title and Other Names
Date of Birth
Hospital No.
Clinical Details
P R I N T
C L E A R L Y
Tel No.
Consultant’s Name(s)
Sex
Date & Time of Specimen
Please tick appropriate box to ensure required
billing procedure
Invoice to Insurer
Dr
Patient
Insurance Details (PMI)
Address for Invoice (Patient)
Previous Histology/Cytology No. (if relevant)
Consultant’s
Signature
Digital Pathology Image (please tick)
NB: PMI rates will apply unless otherwise stated.
Date/Time of specimen
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Anatomic pathology
Anatomic pathology
Anatomic pathology
164
164
4. The Pathologist’s report
Access to reports
Unilabs results reporting is flexible to your needs. Reports can be faxed to a secure
line or posted to your chosen location.
“Doctors for Doctors”
We understand the important relationship between surgeon and pathologist.
Our pathologists will be happy to discuss any aspect of your case with you directly. A
clinical consultant pathologist is available 7 days a week.
For more information, please contact us at: [email protected].
Digital imaging
Visual presentation of pathology findings results in clear, accurate, and objective
reporting is fast becoming standard clinical practice. At the same time, diagnostic
imaging is going through a digital revolution. Images are now readily accessible,
and reporting is improving dramatically. Unilabs provides reports with embedded
pathology images.
Using digital imaging means that written reports can be visually supported.
The extent of disease is also clearly illustrated, as are involved or clear margins. A
visual archive allows for the easy tracking of the progress of disease, and consultants
using digital imaging find visual aids invaluable in explaining diagnosis and treatment
to patients. Subject to appropriate consent, visual material can also be archived for
teaching and research purposes.
5. Turn-around times
It is our aim to report specimens within 7 working days of receipt in the laboratory.
However on occasion, extra fixation, decalcification procedures or further
investigations may prolong this time.
Immunohistochemistry
Immunohistochemistry is a reflex test, which follows a preliminary diagnosis.
Most often it is employed to identify proteins within tumor cells which enables
precise diagnosis of tumor type, e.g. melanoma or specific lymphomas. It may also be
used to identify the presence of particular micro-organisms, such as HPV and other
viruses. Immunohistochemistry is also used to identify the potential effectiveness of
targeted chemotherapy.
Gynecological specimens
Turnaround times are typically 6-7 working days. Unilabs examines Hologic
ThinPrep™ and *SurePath™ samples. Hologic ThinPrep™ samples should be tested
within three weeks (21 days) upon taking the specimen. Additional test requests on
these specimens are only viable within this period. According to current guidelines,
the samples are discarded after 21 days.
* Available by prior arrangement.
Body cavity fluids (i.e. aspirates, sputum, etc.)
Turnaround times are typically 8 working days. The specimens are discarded after one
week according to current guidelines.
Specimen containers without fixative or anticoagulant should be used.
The specimen should be refrigerated at 4°C (with the exception of sputums).
Immunocytochemistry is offered whenever necessary.
Urines
When taking a urine sample, a minimum of 50 mL volume is required, although the
entire sample would be preferable. Ideally this will not be the first voided sample of
the day. Samples should be refrigerated at 4°C. For information on the uCyt+ test,
contact the Cytology Department.
PLEASE NOTE THAT SURPLUS SAMPLES MAY BE USED FOR EDUCATIONAL PURPOSES.
6. Histology –by procedure
Cellular pathology is quite unique to other areas of laboratory medicine in that it
involves a high-level of manual technical workload.
Furthermore, the output is wholly qualitative rather than quantitative. Cellular
pathology reports are subjective medical opinions, rather than measurements.
In the healthcare industry, coding and pricing of cellular pathology can be subject
to a number of factors outside the control of the histopathology provider. These
factors include, but are not limited to:
• Size of surgical margins excised by consultant users.
• Number of biopsies taken by consultant users.
• Reflex testing (e.G. Special stains) requested by the consultant pathologist.
Therefore, the quoted fee for a given surgical procedure may vary based on the
number of specimens submitted, the location and size of the specimens and the
additional studies needed for proper evaluation of the specimen.
At Unilabs, we use the basic and transparent method of quantifying workload in
terms of ‘paraffin blocks’ generated from a case. This is the most accurate way of
reflecting case complexity in terms of categorization and pricing.
Standard coding per block
HIS1
1 Block
HIS2
2 Blocks
HIS3
3 Blocks
HIS4
4-8 Blocks
HIS5
9-15 Blocks
Note: if specimens are in excess of 15 blocks, multiple coding will be used
(e.g. 30 blocks would be HIS5+HIS5).
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166
166
Histology - by procedure
Like most histology providers, the Unilabs coding and pricing structure is based on
case complexity. However, we are sometimes asked to provide quotations based
by specimen or surgical procedures. Although we cannot provide a definitive
categorization until the case has been received in the laboratory, the following
information outlines indicative case complexity by procedure.
Histology description his code
Breast
Core biopsy (1 specimen)
HIS1
Core biopsy (2 specimens)
HIS2
HIS3
HIS4
Microdochectomy
HIS4
Lumpectomy
HIS3
Wide Local Excision (WLE)
HIS5+
Mastectomy
HIS5+
Mastectomy + axillary clearance
HIS5+HIS3
Cardiac - vascular
Temporal artery biopsy
HIS2
Heart valves
HIS2
Aorta
HIS3
Excision of cardiac tumor
HIS3
Cardiac biopsy
HIS2
Pericardium
HIS2
Ear, nose and throat / lung biopsies
Tongue biopsy
HIS1
Palatal biopsy
HIS1
Lingual biopsy
HIS1
Nasopharyngeal biopsy
HIS1
Pharyngeal biopsy
HIS1
Hypopharyngeal biopsy
HIS1
Laryngeal biopsy
HIS1
Middle ear biopsy
HIS1
External canal biopsy
HIS1
Bronchial biopsy
HIS2
Transbronchial biopsy
HIS2
Pleural biopsy
Pleura decortication specimens
167
HIS2
HIS5
Lung lesion small wedge resection
HIS3+
Lung tumor resection +/- nodes
HIS5+
Ear, nose and throat resections
Tonsil (1 specimen)
HIS1
Tonsils (2 specimens)
HIS2
Nasal polyps
HIS1
Uvulectomy
HIS2
Dental cyst
HIS1
Laryngeal nodule (unilateral)
HIS1
Laryngeal nodule (bilateral)
HIS2
Excision of submandibular gland
HIS3
Parotidectomy
HIS4
Partial thyroidectomy
HIS4
Glossectomy
HIS5+HIS2
Rhinectomy
HIS5+HIS2
Glossectomy + neck dissection
HIS5+HIS5
Maxillectomy
HIS5+HIS2
Pharyngectomy
HIS5+HIS5
Pharyngectomy + neck dissection
HIS5+HIS5
Laryngectomy
HIS5
Laryngectomy + neck dissection
HIS5+HIS5
Neck dissection
HIS5+HIS2
Neck dissection (bilateral)
HIS5+HIS5
Endocrine - (usually resections)
Parathyroid
HIS5+
Thyroid (total)
HIS5+
Thyroid (lobe)
HIS3-HIS5
Adrenal
HIS5
Endocrine - (usually resections)
Parathyroid
HIS5+
Thyroid (total)
HIS5+
Thyroid (lobe)
HIS3-HIS5
Adrenal
HIS5
Adrenal
HIS5
Anatomic pathology
Anatomic pathology
Anatomic pathology
Anatomic pathology
168
168
Eyes
Conjunctival biopsy
HIS1
Cornea
HIS1
Orbit contents of eye
HIS1
Lacrimal gland biopsy / excision
HIS2
Globe
HIS4
Gastro-intestinal biopsies
Oesophageal biopsy
HIS1
Gastric biopsy
HIS1
Ampullary biopsy
HIS1
Terminal ileal biopsy
HIS1
Duodenal biopsy
HIS1
Colonic biopsy
HIS1
Rectal biopsy
HIS1
Ileocolonic series
HIS1
Liver biopsy - tumor
HIS3+/- IMM
Liver biopsy - medical
HIS5
Pancreatic biopsy
HIS1
Bile duct biopsy
HIS1
Gastro-intestinal - resections
Gallbladder
HIS2
Endo mucosal resection (EMR / ESD)
HIS3
Polypectomy
HIS2
Appendix
HIS2
Meckel’s diverticulum
HIS3
Haemorrhoidectomy
HIS2
Excision of perianal warts
HIS2
Anal fistula
HIS2
Pilonidal sinus
HIS2
Hernia sac
HIS2
Umbilical lesion
HIS2
Mesentery
HIS2
Large
Oesophagectomy
Sleeve gastrectomy
Gastric wedge resection
HIS5+HIS2
HIS4
HIS5 +/- IMM
169
Gastrectomy
HIS5+HIS2
Whipple’s procedure/
pancreatectoduodenectomy
HIS5+HIS5
Distal pancreatectomy
HIS5
Biliary resection
HIS5
Wedge resection of liver
HIS4
Partial hepatectomy
HIS5
Small bowel resection - benign
HIS5
Small bowel resection - malignant
HIS5+IMM
Large bowel resection - benign
HIS5+HIS2
Large bowel resection - malignant
HIS5+HIS2
Ileoanal pouch resection
Complex: GI cancer resection
+ uterus, tubes
HIS5
HIS5+HIS5+IMM
Gynaecology
Cervical polyp
HIS1
Cervical biopsy
HIS2
Endocervical curettings
HIS1
Endometrial curettings
HIS1
Products of conception
HIS1
LLETZ and / or cone biopsy
HIS4
Ovarian biopsy
HIS2
Ovary and tube
HIS4
Fallopian tube
HIS2
Uterus
HIS4
Uterus, tubes and ovaries
HIS5+HIS2
Placenta
HIS5+HIS2
Vulval biopsy
HIS1
Peritoneal biopsy
HIS1
Lymphorecticular / haematopathology
Lymph node
HIS2
Lymph node (metastatic disease)
HIS3+IMM
Lymph node (lymphoma)
HIS3+IMM
Bone marrow
HIS5
Spleen
HIS5
Thymus
HIS5
Anatomic pathology
Anatomic pathology
Anatomic pathology
Anatomic pathology
170
170
Neuropathology
Brain biopsy
Brain resection
HIS2
HIS3-HIS4
Pituitary gland - resection
HIS3
Spinal tumor biopsy
HIS2
Spinal tumor resection
Muscle biopsy
HIS3
HIS5+HIS5+HIS5
Orthopaedic
Synovial biopsy
HIS2
Ganglion cyst
HIS1
Excision of dupuytren’s contracture
HIS2
Bone curettings
HIS2
Bone biopsy
HIS5+OPIN
Joint resurfacing or redo prosthesis capsule
HIS3
Femoral head resection
HIS3
Neuroma
HIS1
Skin and soft tissue
Curetting
HIS2
Skin excision
HIS1
Excision of melanoma and tumor
HIS2
Pilonidal sinus
HIS1
Cyst excision
HIS1
Lipoma (dependent of size)
HIS1-HIS3
Punch biopsy (tumor)
HIS1
Punch biopsy (inflammatory)
HIS2
Alopecia biopsy
HIS3
Sentinel nodes in skin cancer (melanoma)
MOHS excision (frozen section)
HIS5
MOHS
Soft tissue tumor biopsy
HIS3+IMM
Soft tissue tumor resection
HIS3+IMM
Urology
Vasectomy
HIS2
Penile biopsy
HIS2
Urethral biopsy
HIS1
Bladder biopsy
Testicular biopsy (unilateral)
Testicular biopsy (bilateral)
Core biopsy
Urology resections
Circumcision
171
HIS1
HIS4
HIS4+HIS4
HIS1
HIS1
TURP (dependent on number of blocks)
HIS3-HIS5
TURBT (dependent on number of blocks)
HIS3-HIS5
Testis
HIS3
Kidney
HIS5
Radical cystectomy
HIS5+HIS2
Cystoprostatectomy
HIS5+HIS5
Prostatectomy
HIS5+HIS5
Immunohistochemistry
Per antibody
HER2 (breast)
HER2FISH (breast)
Immunofluorescence
KRAS Gene mutation test
KIT / PDGFRA Gene mutation test
Expert-field opinion
1IMM
HER2
HER2FISH
IMF
KRAS
KIT/PDGFRA
OPIN
Frozen sections
Small frozen section
FS
Large frozen section
FS1
Anatomic pathology
Anatomic pathology
Anatomic pathology
7. Cytopathology-by procedure
Anatomic pathology
172
172
Screening Cytopathology (gynae-cytology)
The Gynecological Service is headed up by Dr Ash Chandra - Medical Director of
Cytopathology at Unilabs and consultant cytopathologist at Guys & St Thomas’s
UK’s NHS Foundation Trust. All of our Cytoscreeners hold the national certificate of
competence in cervical screening and are fully accredited to examine liquid-based
cytology samples.
Unilabs works in association with Roche and its state-of-the-art cobas® 4800 platform
to provide a range of Human Papilloma Virus (HPV) services to women across Europe.
Key features of this service include:
• Fast turnaround time.
• Web access to reports 24/7 via a secure link.
• Cyto-Histo correlational analysis.
• Processing of both *SurePath™ and ThinPrep™ samples.
• Access to the only NHSCSP, CE IVD and FDA-approved test that provides
simultaneous 3-in-1 testing.
* Available by prior arrangement
We offer an extensive range of services that can be flexed around your requirements,
including standard cervical screening (pap smears), HPV testing including sub-types,
and reflex testing on positive samples.
Gynaecological cellular pathology
ThinPrep™ Smear
GYN2
cobas® HPV on ThinPrep™ including FREE
high risk subtypes 16 & 18 if positive
GYN3
HPV full subtyping
HPV RNA on ThinPrep™
cobas® Chlamydia on ThinPrep™
HPV20
RNA
GYN4
cobas® Chlamydia on urine
GYN4U
cobas® Chlamydia on swab
GYN4S
Gold Standard test including, ThinPrep™
smear, cobas® Chlamydia and FREE high
risk, Subtypes 16 & 18 if HPV positive
Gonorrhoea on ThinPrep™
GYN5
TGON
Gonorrhoea on urine
TGONU
Gonorrhoea on swab
TGONS
173
Sexual health profile
Mycoplasma genitalium
MG3
Ureaplasma urealyticum
UG3
Trichomonas vaginalis
Gardnerella vaginalis
Herpes simplex I / II
Combination: Chlamydia, gonorrhoea,
mycoplasma genitalium, ureaplasma
urealyticum, trichomonas vaginalis,
gardenerella vaginalis, herpes simplex I / II
TV3
GVP3
HS3
GYN6
Diagnostic Cytopathology
The laboratory offers services including non-gynecological exfoliative cytology
and Fine Needle Aspiration cytology. Our experienced team provides evaluation of
fluids (e.g. urine, synovium, sputum, CSF), washings and brushings from various
sites in the body.
Diagnostic cytology
Urine
CYT1
Body fluids and sputum
CYT2
Fine needle aspiration (FNA)
CYT3
FISH on cytology samples
FISHC
UroVysion (FISH for urine)
UROV
Flow cytometry
CYT7
Gene mutation test
EGFR
Gene mutation test
KRAS
Urology marker
UROV
Anatomic pathology
Anatomic pathology
Human Genetics
1.How to read our catalogue
Human Genetics
174
174
1 Category
5 OMIM Gene/Locus
8 DNA/RNA
2 Volume, sample
6 Panel
9 Turn-around time
3 Description
of pathology
7 Description
10 Conservation
4 OMIM Phenotype
Example:
1 Genetic diagnosis of systemic diseases
2 Volume, sample: 5-10 ml Blood-EDTA
3 Kindler syndrome
5 OMIM Gene/Locus: 607900 4 OMIM Phenotype: 173650 6 Panel: 1 7 Complete sequencing of gene FERMT1 (KIND1)
8 DNA
9 TAT: 7-9 weeks
10 Conservation: 4ºC
In this chapter are listed the most common analyses of human genetics. If you need more
information or have a particular question, please contact us by e-mail at:
[email protected]. Our specialists in Human Genetics will be glad to answer your questions.
Standard request form
LABORATORY ID
Unilabs Lausanne
Rue de la Vigie 5 /..1#
32/,.-0/10/2...
367
Sample n°:
$)
/ / ORDERING PHYSICIAN
LAST NAME:
EMAIL:
TELEPHONE:
FIRST NAME:
STREET ADRESS:
ZIP CODE:
CITY:
PATIENT INFORMATION
LAST NAME:
MALE
FIRST NAME:
DATE OF BIRTH:
/ / FEMALE
STREET ADRESS:
ZIP CODE:
CITY:
EMAIL:
ETHNIC ORIGIN
AFRICAN
ASIAN
JEWISH ASHKENAZI
ARABIC
CAUCASIAN
HISPANIC
OTHER:
FAMILY HISTORY
Describe or join a pedigree
ANALYSIS REQUESTED
CYSTIC FIBROSIS*
Sequence analysis of the entire coding region, CFTR
Other analysis*, please specify:
DNA banking
Consent
Submission of tests in this catalogue
constitutes guarantee to Unilabs by
ordering physician that:
1. prescribing physician has obtained “informed consent” of the patient for
each test prescribed;
2. prescribing physician has obtained the patient’s authorization allowing
Unilabs to report results of each prescribed test directly to the physician.
SAMPLE INFORMATION
COLLECTION DATE:
/ / mL EDTA blood sample (>4 mL)
ng/#,41g)
other type
BILLING INFORMATION
Health Insurance
Hospital/Ordering laboratory Insurance name:
! ! #)
PHYSICIAN CONSENT
& !& $ & ! % # *!& $$+ !&,+-*
PATIENT CONSENT
My DNA can be used anonymously in research projects
My DNA should be kept in the laboratory for other personal
analysis
& & &
!$( #&#&
purposes
DATE AND PLACE
SIGNATURE
DATE AND PLACE
SIGNATURE
* Part of this analysis might be outsourced to another partner laboratory
Most of these tests are carried out with EDTA blood (please send the tube cooled, the sample
is stable for 5 days). When RNA analysis is required, please use a PAX gene tube for RNA analysis.
4.Test list
Genetic diagnosis of systemic diseases
175
Volume, sample: 5-10 ml Blood-EDTA
Cinca syndrome; cold induced autoinflammatory syndrome (syndrome chronic infantile
neurological cutaneous and articular inflammatory, familial cold-induced urticaria)
OMIM Gene/Locus: 606416
OMIM Phenotype: 607115 Panel: 1 Complete sequencing of gene NLRP3 (CIAS1)
DNA
TAT: 4 weeks
Conservation: 4ºC
Familial mediterranean fever, autosomal dominant and recesive
OMIM Phenotype: 134610; 249100
Panel: 1 Sequencing of exons 2,3,5 and 10 of gene MEFV
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene MEFV
DNA
TAT: Please inquire
Conservation: 4ºC
Panel: 3 Analysis of mutations: E148Q, P369S, F479L, M680I (G / C), M680I
(G / A), I692del, M694V, M694I, K695R, V726A, A744S, R761H of MEFV gene
DNA
TAT: 6 days
Conservation: 4ºC
D hyperimmunoglobulinemia and periodic fever, hids syndrome
OMIM Phenotype: 260920 OMIM Gene/Locus: 251170
Panel: 1 Sequencing exons 2, 9 and 11 of MVK gene
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of MVK gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Periodic fever syndrome associated tnf-alpha (traps)
Panel: 1 Sequencing of gene exons 2-4 TNFRSF1A
DNA
TAT: 3-4 weeks
Conservation:
Panel: 2 Sequencing of remaining exons TNFRSF1A
DNA
TAT: 6-8 weeks
Conservation:
Panel: 3 Complete sequencing of TNFRSF1A
DNA
TAT: 4 weeks
Conservation:
Panel: 4 Screening of mutations P46L, C55S, C70S, C70R, C70Y, R92Q of TNFRSF1A
DNA
TAT: 2 weeks
Conservation:
4ºC
4ºC
4ºC
4ºC
Papa’s syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)
Panel: 1 Complete sequencing of gene PSTPIP1
DNA
TAT: 7-9 weeks Conservation: 4ºC
Panel: 2 OMIM Gene/Locus: 300248
Complete sequencing of gene IKBKG
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
176
176
Kindler syndrome
OMIM Phenotype: 173650 OMIM Gene/Locus: 607900 Panel: 1 Complete sequencing of gene FERMT1 (KIND1)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Lymphedema and distiquiasis syndrome
OMIM Phenotype: 153400
Panel: 1 Complete sequencing of gene FOXC2
DNA
Hemolytic uremic syndrome, typical and atypical
OMIM Phenotype: 235400; 612923; 612922
OMIM Gene/Locus: 134370; 217030 Panel: 1 Analysis of factors CFH, CFI and MCP
DNA
TAT: 6 weeks Conservation: 4ºC
Pitt-hopkins syndrome
Panel: 1 Complete sequencing of gene TCF4
DNA
Panel: 2 Analysis of large deletions by MLPA TCF4 gene
DNA
Sjogren-Larsson
Panel: 1 Complete sequencing of gene Aldh3a2
DNA
Griscelli syndrome type 2 (neurological involvement)
Panel: 1 Complete sequencing of gene RAB27A
DNA
Albinism, ocular, type i; oa1 linked to chromosome X (nettleship falls type)
Panel: 1 Complete sequencing of gene GPR143 (OA1)
DNA
Albinism oculocutaneous type 1 (oca1)
Panel: 1 Complete sequencing of gene TYR
DNA
OMIM Phenotype: 203200 OMIM Gene/Locus: 611409 Panel: 1 Complete sequencing of gene OCA2
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 2.7 kb deletion of OCA2 gene
DNA
TAT: 10 days
Conservation: 4ºC
Panel: 1 Complete sequencing of gene TYRP1
DNA
Albinism oculocutaneous type iv (oca4)
Panel: 1 Complete sequencing of gene SLC45A2 (MATP)
DNA
Angioedema, hereditary, types i and ii, quincke’s edema
Panel: 1 Complete sequencing of gene SERPING1 (C1NH)
DNA
Atopic dermatitis and ichthyosis vulgaris
Panel: 1 Mutations R501X and FLG gene c.2282del4
DNA
Ectodermal dysplasia, hypohidrotic, x-linked; xhed
Panel: 1 Complete sequencing of gene DI1 (EDA)(X-linked)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 MLPA Analysis ED1 gene (EDA)
DNA
TAT: 2 weeks
Conservation: 4ºC
Ectodermal dysplasia, hypohidrotic, autosomal recessive
Panel: 1 Complete sequencing of gene EDARADD
DNA
Ectodermal dysplasia, hypohidrotic, autosomal dominant
OMIM Gene/Locus: 300451; 604095; 606603
Panel: 1 MLPA Analysis of large deletions in genes EDA, EDAR and EDARADD
DNA
177
Human Genetics
Human Genetics
Human Genetics
Human Genetics
178
178
Ectodermal dysplasia, hypohidrotic, with immune deficiency
OMIM Phenotype: 300291 OMIM Gene/Locus: 300248 Panel: 1 4-10 deletion of exons in gene IKBKG
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene IKBKG
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Ectodermal dysplasia, hidrotic, autosomal dominant
Panel: 1 Complete sequencing of gene GJB6 (connexin 30)
DNA
Dyskeratosis congenita, x-linked; dkcx
Panel: 1 Complete sequencing of gene DKC1
DNA
Dyskeratosis congenita, autosomal dominant, 1; dkca1
Panel: 1 Complete sequencing of TERC gene (TR)
DNA
Dyskeratosis congenita, autosomal dominant, 2; dkca2 and autosomal recesive 4 dkcb4
Panel: 1 Complete sequencing of TERT gene
DNA
Dyskeratosis congenita, autosomal dominant, 3; dkca3
Panel: 1 Complete sequencing of gene TINF2
DNA
Dyskeratosis congenita, autosomal recessive, 1; dkcb1
Panel: 1 Complete sequencing of gene NOP10 (NOLA3)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Dyskeratosis congenita, autosomal recessive, 2; dkcb2
Panel: 1 Complete sequencing of gene NHP2 (NOLA2)
DNA
Eec syndrome type 3 (ectrodactyly, ectodermal dysplasia and cleft)
OMIM Phenotype: 604292 OMIM Gene/Locus: 603273 Panel: 1 Analysis of mutations located at positions R204, R227, R279,
R280 and R304 TP63L gene (TP73L)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene TP63L (TP73L)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 3 Screening exons 5-8 and 13-14 TP63L gene
DNA
TAT: 7 weeks
Conservation: 4ºC
Hay-wells syndrome
Panel: 1 Screening TP63 gene exons 13-14
DNA
Darier-white disease
Panel: 1 Complete sequencing of gene ATP2A2
DNA
Epidermolysis bullosa pyloric atresia
Panel: 1 ITGB4 complete gene Secuenciaión
DNA
Epidermolysis bullosa pyloric atresia
Panel: 1 ITGA6 complete gene Secuenciaión
DNA
Epidermolysis bullosa simplex with muscular dystrophy
Panel: 1 Complete gene Secuenciaión PLEC1
DNA
TAT: 14-18 weeks
Conservation: 4ºC
Epidermolysis bullosa dystrophica, autosomal dominant
Panel: 1 Autosomal dominant: COL7A1 gene sequencing exons 73-76
DNA
TAT: Please inquire
Conservation: 4ºC
179
Human Genetics
Human Genetics
Human Genetics
Human Genetics
180
180
Epidermolysis bullosa dystrophica, autosomal recessive
OMIM Phenotype: 226600 OMIM Gene/Locus: 120120 Panel: 1 MLPA analysis of deletions / duplication COL7A1 gene
DNA
TAT: Please inquire
Conservation: 4ºC
Panel: 2 Complete sequencing of COL7A1 gene
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Epidermolysis bullosa simplex, weber-cockayne type /epidermolysis bullosa of hands and
feet /acral form
Panel: 1 Complete sequencing of gene KRT5
DNA
Complete sequencing of gene KRT14
DNA
ITGB4 complete gene Secuenciaión
DNA
Epidermolytic hyperkeratosis, late-onset, included
Panel: 1 Complete sequencing of gene KRT1
DNA
Complete sequencing of gene KRT10
DNA
Ichthyosiform erythroderma, congenital, nonbullous, 1; ncie1
Panel: 1 Complete sequencing of gene TGM1
DNA
Complete sequencing of gene ALOX12B
DNA
Complete sequencing of gene ALOXE3
DNA
Incontinentia pigmenti
Panel: 1 4-10 deletion of exons in gene IKBKG (NEMO) DNA
Panel: 2 Complete sequencing of gene IKBKG (NEMO) DNA
Ichthyosis, lamellar, 1; li1
OMIM Phenotype: 242300 OMIM Gene/Locus: 190195 Panel: 1 Complete sequencing of gene TGM1
DNA
Ichthyosis, lamellar, 2; li2
Panel: 1 Sequencing of gene exons 28-32 ABCA12 DNA
Panel: 2 Complete sequencing of gene ABCA12 DNA
TAT: 14-18 weeks
Conservation: 4ºC
Ichthyosis, x-linked; xli
Panel: 1 Complete sequencing of gene STS DNA
Panel: 2 Analysis of large deletions by MLPA STS gene DNA
TAT: Please inquire
Conservation: 4ºC
Ichthyosis vulgaris (simplex)
Panel: 1 Complete sequencing of FLG gene DNA
Erythroderma, ichthyosiform, congenital reticular; crie (ichthyosis with confetti; iwc,
ichthyosis variegata)
Panel: 1 Complete sequencing of gene KRT10 DNA
Ichthyosis bullosa of siemens
Ichthyosis hystrix, curth-macklin type; ihcm
181
Human Genetics
Human Genetics
Human Genetics
Human Genetics
182
182
Mast cell disease, urticaria pigmentosa
OMIM Phenotype: 154800 OMIM Gene/Locus: 164920 Panel: 1 Analysis of mutation in gene D816V KIt(CD117)
DNA
Panel: 2 Complete sequencing of gene KIt(CD117)
DNA
Pachyonychia congenita, jadassohn-lewandowsky type
Panel: 1 Complete sequencing of gene KRT6A DNA
Complete sequencing of gene KRT16 DNA
Pachyonychia congenita, jackson-lawler type
Panel: 1 Complete sequencing of gene KRT6B DNA
Piebald trait
Panel: 1 Complete sequencing of KIT gene DNA
Pseudoxanthoma elasticum, gronblad-strandberg syndrome
Panel: 1 Complete sequencing of gene ABCC6 DNA
TAT: 7-9 weeks Conservation:
Panel: 2 More ABCC6 gene sequencing 16.4 kb deletion DNA
TAT: 6 weeks Conservation:
Panel: 3 23-29 more 16.4Kb deletion sequencing of exons 24 and 28 ABCC6 gene DNA
Panel: 4 Analysis of large deletions by MLPA ABCC6 gene
DNA
TAT: Please inquire Conservation:
4ºC
4ºC
4ºC
4ºC
Keratitis-ichthyosis-deafness syndrome, autosomal dominant, kid syndrome
OMIM Phenotype: 148210 OMIM Gene/Locus: 121011 Panel: 1 Complete sequencing of gene GJB2 (connexin 26)
DNA
Palmoplantar keratoderma, epidermolytic
Keratoderma, palmoplantar, with deafness
Panel: 1 Complete sequencing of gene GJB2 (connexin 26) DNA
Keratosis follicularis spinulosa decalvans, x-linked, siemens syndrome
Panel: 1 Complete sequencing of gene MBTPS2 DNA
Acro-dermato-ungual-lacrimal-tooth syndrome
Panel: 1 Complete sequencing of gene TP63L (TP73L) DNA
Familial cold autoinflammatory syndrome 1
Panel: 1 Complete sequencing of gene NLRP3 (CIAS1) DNA
Clouston hidrotic ectodermal dysplasia
Panel: 1 Complete sequencing of gene GJB6 (connexin 30) DNA
183
Human Genetics
Human Genetics
Human Genetics
Human Genetics
184
184
Hermansky-pudlak syndrome 1
OMIM Phenotype: 203300 OMIM Gene/Locus: 604982 Panel: 1 Complete sequencing of gene HPS1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene AP3B1 DNA
Panel: 1 Complete sequencing of gene HPS3
DNA
DNA
DNA
DNA
Panel: 1 Complete sequencing of gene DTNBP1
DNA
Panel: 1 Complete sequencing of gene BLOC1S3
DNA
Feingold syndrome type 1
OMIM Phenotype: 164280 OMIM Gene/Locus: 164840 Panel: 1 MYCN gene sequencing
DNA
Gorlin syndrome, basal cell nevus syndrome
Panel: 1 Complete sequencing of gene PTCH1
DNA
Muckle-wells syndrome, urticaria-deafness-amyloidosis syndrome
Panel: 1 Complete sequencing of gene NLRP3 (CIAS1)
DNA
Hay-wells syndrome, ankyloblepharon-ectodermal defects-cleft lip/palate
Panel: 1 Complete sequencing of gene TP63L (TP73L)
DNA
Netherton syndrome
Panel: 1 Screening exons 1-8 and 20-26 SPINK5 gene
DNA
Panel: 2 Complete sequencing of gene SPINK5
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Rothmund-thomson syndrome
Panel: 1 RECQL4 gene sequencing
DNA
TAT: Please inquire Conservation: 4ºC
Vohwinkel syndrome (deafness, congenital, with keratopachydermia and constrictions of
fingers and toes)
DNA
Hereditary hemorrhagic telangiectasia of rendu, osler, and weber type 1
Panel: 1 Complete sequencing of gene ENG (HHT1)
DNA
185
Human Genetics
Human Genetics
Human Genetics
Human Genetics
186
186
Hereditary hemorrhagic telangiectasia of rendu, osler, and weber type 2
OMIM Phenotype: 600376 OMIM Gene/Locus: 601284 Panel: 1 Complete sequencing of gene ACVRL1/ALK1 (HHT2)
DNA
Trichothiodystrophy, photosensitive
Panel: 1 Complete sequencing of gene ERCC2 (XPD)
DNA
Complete sequencing of gene ERCC3 (XPB)
DNA
Complete sequencing of gene GTF2H5 (TTDA)
DNA
Trichothiodystrophy, non photosensitive
Panel: 1 Complete sequencing of gene C7ORF11 (TTDN1)
DNA
Xeroderma pigmentosum (complementation group a)
Panel: 1 Complete sequencing of gene XPA (Group Compl. A)
DNA
Xeroderma pigmentosum (complementation group b)
Panel: 1 Complete sequencing of gene ERCC3 (Group Compl. B)
DNA
Xeroderma pigmentosum (complementation group c)
Panel: 1 Complete sequencing of XPC gene (Group Compl. C)
DNA
Xeroderma pigmentosum (complementation group d)
Panel: 1 Complete sequencing of gene ERCC2 (Group Compl. D)
DNA
Xeroderma pigmentosum (complementation group e)
OMIM Phenotype: 278740 OMIM Gene/Locus: 600811 Panel: 1 Complete sequencing of gene DDB2 (Group Compl. E)
DNA
Xeroderma pigmentosum (complementation group f)
Panel: 1 Complete sequencing of gene ERCC4 (Group Compl. F)
DNA
Xeroderma pigmentosum (complementation group g)
Panel: 1 Complete sequencing of gene ERCC5 (Group Compl. G)
DNA
Xeroderma pigmentosum (variant type)
Panel: 1 Complete sequencing of gene POLH
DNA
Genetic diagnosis of neurological diseases
Jaeken syndrome
OMIM Phenotype: 212065 OMIM Gene/Locus: 601785 Panel: 1 Complete sequencing of gene PMM2
DNA
Spinocerebellar ataxia with coenzyme q deficiency
Panel: 1 Complete sequencing of gene CABC1 (ADCK3)
DNA
Ataxia with oculomotor apraxia, early onset
Panel: 1 Complete sequencing of gene APTX
DNA
Ataxia with oculomotor apraxia type 2
Panel: 1 Complete sequencing of SETX gene
DNA
187
Human Genetics
Human Genetics
Human Genetics
Human Genetics
188
188
Episodic ataxia type 2
OMIM Phenotype: 108500 OMIM Gene/Locus: 601011 Panel: 1 Complete sequencing of CACNA1A
DNA
Hereditary benign chorea
Panel: 1 Complete sequencing of NKX2-1 gene (TITF1)
DNA
Huntington’s disease-like 2
Panel: 1 Analysis of CTG triplet expansion JPH3 gene
DNA
Early infantile epileptic encephalopathy type 1
Panel: 1 Complete sequencing of ARX gene
DNA
Panel: 1 Complete sequencing CDKL5 gene
DNA
Panel: 1 Complete sequencing of gene SLC25A22
DNA
Panel: 1 Complete sequencing of gene STXBP1
DNA
Panel: 1 Complete sequencing of gene SPTAN1
DNA
Nasu-hakola disease; polycystic lipomembranous osteodisplasia
OMIM Phenotype: 221770 OMIM Gene/Locus: 604142 Panel: 1 Complete sequencing of gene TYROBP (DAP12)
DNA
Panel: 2 OMNIM Gene/Locus: 605086
Complete sequencing TREM2 gene
DNA
Paroxysmal kynesigenic dyskinesia
Panel: 1 Complete sequencing of gene PRRT2
DNA
Epilepsy pyroxene-dependent
Panel: 1 Complete sequencing of ALDH7A1 gene
DNA
Panel: 2 Analysis N273fs mutations R307X and ALDH7A1 gene
DNA
Family schizencephaly
Panel: 1 Complete sequencing of gene EMX2
DNA
Periventricular nodular heterotopia
Panel: 1 Complete sequencing of gene FLNA
DNA
Hereditary hiperekplexia type 1
Panel: 1 Complete sequencing of gene GLRA1
DNA
Panel: 1 Complete sequencing of gene GLRB
DNA
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190
OMIM Phenotype: 614618 OMIM Gene/Locus: 604159 Panel: 1 Complete sequencing of SLC6A5 gene
DNA
Hereditary hiperekplexia pannel
OMIM Phenotype: 149400; 614619; 614618 OMIM Gene/Locus: 138491; 138492; 604159
Panel: 1 Analysis by MLPA GLRA1 deletions, and SLC6A5 GLRB
DNA
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (includes sando and scae)
Panel: 1 Complete sequencing of gene POLG
DNA
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal
dominant, 3
Panel: 1 Complete sequencing of gene C10ORF2 (TWINKLE)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Familial hemiplegic migraine 1
Panel: 1 Complete sequencing of CACNA1A
DNA
Symmetric and asymmetric polymicrogyria
Panel: 1 Complete sequencing of gene TUBB2B
DNA
Bilateral frontoparietal polymicrogyria
Panel: 1 Complete sequencing of gene GPR56
DNA
Rolandic epilepsy, mental retardation and speech dyspraxya x linked
Panel: 1 Complete sequencing of gene SRPX2
DNA
Aicardi Goutieres Syndrome Type 5
OMIM Phenotype: 612952 Panel: 1 OMIM Gene/Locus: 606754 Complete sequencing of gene SAMHD1
DNA
Birk-barel syndrome; mental retardation dysmorphism maternally inherited
Panel: 1 Complete sequencing of gene KCNK9
DNA
Borjeson-Forssman-lehmann syndrome
Panel: 1 Complete sequencing of gene PHF6
DNA
Joubert syndrome type 1
Panel: 1 Complete sequencing of gene INPP5E
DNA
Panel: 1 Complete sequencing of gene AHI1
DNA
Panel: 1 Analysis of homozygous deletion NPHP1
DNA
Panel: 1 Complete sequencing of CEP290 gene
DNA
Panel: 1 Complete sequencing of gene TMEM67
DNA
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192
OMIM Phenotype: 611560 OMIM Gene/Locus: 610937 Panel: 1 Complete sequencing of gene RPGRIP1L
DNA
Panel: 1 Complete sequencing of gene ARL13B
DNA
Panel: 1 Complete sequencing of gene CC2D2A
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Meckel syndrome type 1
Panel: 1 Complete sequencing of gene MKS1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene TMEM67
DNA
TAT: 9-12 weeks
Conservation: 4ºC
DNA
TAT: 14-18 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene RPGRIP1L
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene CC2D2A
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Unverricht-lundborg myoclonic epilepsy
OMIM Phenotype: 254800 OMIM Gene/Locus: 601145 Panel: 1 Expansion of a dodecamer in CSTB gene (EPM1A)
DNA
Panel: 2 5 Analysis CSTB gene mutations: c.10G> C, c.67-1G> C, C.169-2A> G, C.202C> TY C.218_219delTC
DNA
Wolfram syndrome type 1
Panel: 1 Complete sequencing of WFS1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Wolfram syndrome type 2
Panel: 1 Complete sequencing of gene CISD2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Myasthenic syndrome, congenital, associated with episodic apnea, familial infantile
myastenia
Panel: 1 Complete sequencing of gene CHAT
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Congenital myasthenic syndrome with acetylcholinesterase deficiency, engel type
Panel: 1 Complete sequencing of gene COLQ
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Congenital myasthenic syndrome, fast and slow channel
Panel: 1 Complete sequencing of gene CHRND
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Deafness x linked type 2
Panel: 1 Complete sequencing of POU3F4 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
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194
Adrenoleukodystrophy; Adison disease and cerebral esclerosis
OMIM Phenotype: 300100 OMIM Gene/Locus: 300371 Panel: 1 Complete sequencing of gene ABCD1
DNA
Panel: 2 MLPA analysis of large gene deletions ABCD1
DNA
Agenesis of the corpus callosum X linked
Panel: 1 Complete sequencing of gene SPG1 (L1CAM)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 SPG1 MLPA Analysis gene (L1CAM)
DNA
TAT: 4 weeks
Conservation: 4ºC
Alzheimer disease familial type 1, early onset
Panel: 1 Complete sequencing of APP gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Sequencing of exons 16 and 17 of APP gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3 MLPA analysis of gene duplications in APP
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Alzheimer disese familial type 2
Analysis of polymorphisms G219T, T392C and G113C APOE gene
DNA
TAT: Conservation: Alzheimer disease familial type 3
Panel: 1 Complete sequencing of gene PSEN1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Sequencing exons 4, 5, 6 and 7 and 8 gene intron PSEN1
DNA
TAT: 2 weeks
Conservation: 4ºC
Alzheimer disease familial type 4
Panel: 1 Complete sequencing of gene PSEN2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Sequencing of exons4, 5, 6 ,7 and 8 of gene PSEN2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Alzheimer disease familial types 3 and 4 pannel
OMNIM Gene/Locus: 104311 Panel: 1 Screening of genes PSEN1 and PSEN2
DNA
Sequencing exons 4, 5, 6, 7 and 8 gene intron PSEN1
DNA
Panel: 3 OMNIM Gene/Locus: 104311; 600759
Complete sequencing of gene PSEN2
DNA
Alzheimer, susceptibility to
OMIM Gene/Locus: 104311; 600759
Panel: 1 Screening of genes PSEN1 and PSEN2
DNA
TAT: 2 weeks
Conservation: 4ºC
Analysis of polymorphisms G219T, T392C and G113C APOE gene
DNA TAT: Conservation: Panel: 3 OMNIM Gene/Locus: 103950
Polymorphisms of V1000I and EX18 (5BP) A2M gene
DNA
Screening of genes Apo-E, PSEN1, PSEN2, APP 16, 17, MAPt(TAU)
DNA
Panel: 5 OMNIM Gene/Locus: 107741; 104311; 600759, 104760
Screening of Apo-E genes, PSEN1, PSEN2, APP 16, 17
DNA
Cerebral amyloid angiopathy
Panel: 1 Complete sequencing of APP gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of APP gene duplications by MLPA
DNA
Panel: 3 Sequencing of exons 16 and 17 of APP gene
DNA
Ataxia with vitamin e deficiency
Panel: 1 Screening of mutation 744delA in gene TTPA
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of TTPA gene
DNA
TAT: 6-7 weeks
Conservation: 4ºC
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196
Friedreich’s ataxia (FRDA)
OMIM Phenotype: 229300 OMIM Gene/Locus: 606829 Panel: 1 Analysis GAA triplet expansion FXN gene
DNA
Panel: 2 Complete sequencing of gene FXN
DNA
Panel: 1 Gene sequencing KCNA1
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of CACNA1A
DNA
TAT: 2 weeks
Conservation: 4ºC
Spinocerebellar ataxia, dominant type 1
Panel: 1 Analysis CAG expansion SCA1 gene (ATXN1)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 1 Analysis of gene expansion SCA2 CAG (ATXN2)
DNA
TAT: 2 weeks
Conservation: 4ºC
Spinocerebellar ataxia, dominant type 3; Machado-Joseph disease
Panel: 1 Analysis expansion SCA3 gene CAG (ATXN3)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene SPTBN2 (SCA5)
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Panel: 1 Analysis of gene CAG expansion SCA6 (CACNA1A)
DNA
TAT: 2 weeks
Conservation: 4ºC
OMIM Phenotype: 164500 OMIM Gene/Locus: 607640 Panel: 1 Analysis of gene CAG expansion SCA7 (ATXN7)
DNA
Panel: 1 Expansion Analysis (CTA, CTG) SCA8 gene (ATXN8OS)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 1 Analysis SCA10 gene ATTCT expansion (ATXN10)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing TTBK2 gene (SCA11)
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Panel: 1 Analysis CAG expansion SCA12 gene (PPP2R2B)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing KCNC3 gene (SCA13)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing PRKCG gene (SCA14)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Analysis expansion CAA / CAG SCA17 gene (TBP)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
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198
Spinocerebellar ataxia, dominant type
OMIM Phenotype: 609307 OMIM Gene/Locus: 601515 Panel: 1 Complete sequencing of FGF14 gene (SCA27)
DNA
Spinocerebellar ataxias, 2 genes pannel
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Simultaneous analysis of two genes of SCA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Simultaneous analysis of 3 genes of SCA
DNA
TAT: 4-6 weeks
Conservation: 4ºC
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Simultaneous analysis of 4 genes of SCA
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Ataxia telangiectasia or louis-bar syndrome
Panel: 1 Complete sequencing of ATM gene
DNA
TAT: 30 weeks
Conservation: 4ºC
Panel: 2 Analysis of duplications / deletions by MLPA ATM gene
DNA
Dentatorubral pallidoluysan atrophy (DRPLA)
Panel: 1 Analysis CAG expansion DRPLA gene (ATN1)(atrophin 1)
DNA
TAT: 2 weeks
Conservation: 4ºC
Spinal and bulbar muscular atrophy, X linked, Kennedy disease
Panel: 1 Analysis CAG expansion AR gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Spinal muscular atrophy type 1
Panel: 1 MLPA analysis of homozygous deletion of exon 7 of gene SMN1
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Analysis carrying deletion of exon 7 SMN1
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 3 OMIM Gene/Locus: 600354, 601327
Analysis by MLPA SMN1 and SMN2
DNA
TAT: 2 weeks
Conservation: 4ºC
Beare-Stevenson cutis gyrata syndrome
Panel: 1 Analysis and ser372cys tyr375cys mutations of FGFR2 gene
DNA
TAT: Please inquire
Conservation: 4ºC
CADASIL, cerebral arteriopathy autosomal dominant
Panel: 1 Analysis of mutations in exons 3 and 4 of gene NOTCH3
DNA
TAT: 2 weeks
Conservation:
Panel: 2 Analysis of mutations in exons 5, 6,11,12,18 and 19 NOTCH3 gene
DNA
TAT: 3-4 weeks
Conservation:
Panel: 3 Complete sequencing of NOTCH3 gene
DNA
TAT: Please inquire
Conservation:
Panel: 4 Sequencing of exons 2, 5 and 11 of NOTCH 3 gene
DNA
TAT: 4 weeks
Conservation:
4ºC
4ºC
4ºC
4ºC
Ceroid lipofuscinosis neuronal type 3, Batten disease
Panel: 1 CLN3 gene deletion 1kb
DNA
TAT: 5 days
Conservation: 4ºC
PPT1 gene mutation R151X
DNA
TAT: 5 days
Conservation: 4ºC
Ceroid lipofuscinosis neuronal type 7
Panel: 1 Complete sequencing of gene MFSD8
DNA
TAT: Please inquire
Conservation: 4ºC
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Huntington disease
Panel: 1 Analysis CAG expansion HTT gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 1A
Panel: 1 Detecting duplication CMT1A (17p11.2) gene PMP22
DNA
TAT: 1 week
Conservation: 4ºC
Charcot-Marie-Tooth X linked, dominant
Panel: 1 Complete sequencing of gene GJB1 (Conexina32)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Charcot-Marie-Tooth demyelinating type 1B
Panel: 1 Complete sequencing of MPZ gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 1C
Panel: 1 Description: Complete sequencing of gene LITAF
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 1D
Panel: 1 Complete sequencing of gene EGR2
DNA
TAT: 5 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 1E
Panel: 1 Complete sequencing of gene PMP22
DNA
TAT: 2 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type demyelinating 1F
Panel: 1 Complete sequencing of NEFL gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Charcot-Marie-Tooth disease type 2A1
Panel: 1 Complete sequencing of gene KIF1B
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Charcot-Marie-Tooth disease type 2A2
Panel: 1 Complete sequencing of gene MFN2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 2B
Panel: 1 Complete sequencing of gene RAB7A
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 2B1
Panel: 1 Complete sequencing of LMNA gene
DNA
TAT: 8 weeks
Conservation: 4ºC
Panel: 1 TRPV4 gene sequencing
DNA
Charcot-Marie-Tooth type 2D
Panel: 1 Complete sequencing of GARS gene
DNA
Panel: 1 Complete sequencing of NEFL gene
DNA
Charcot-Marie-Tooth disease type 2F
Panel: 1 Complete sequencing of gene HSPB1
DNA
Charcot-Marie-Tooth type 2I,2J
DNA
TAT: 3-4 weeks
Conservation: 4ºC
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Charcot-Marie-Tooth type 2K
Panel: 1 Complete sequencing of GDAP1 gene
DNA
Charcot-Marie-Tooth disease type 2L
Panel: 1 Complete sequencing of gene HSPB8
DNA
Charcot-Marie-Tooth type 3; Dejerine-Sottas syndrome
DNA
TAT: 3-4 weeks Panel: 2 OMIM Gene/Locus: 159440
Complete sequencing of MPZ gene
DNA
Complete sequencing of gene EGR2
DNA
Complete sequencing of gene PRX
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Charcot-Marie-Tooth type 4A
Panel: 1 Complete sequencing of GDAP1 gene
DNA
Panel: 1 Complete sequencing of gene MTMR2
DNA
Panel: 1 Complete sequencing of gene SBF2
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene SH3TC2
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Charcot-Marie-Tooth disease type 4D
Panel: 1 Complete sequencing of gene NDRG1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene EGR2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 4F
Panel: 1 Complete sequencing of gene PRX
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Charcot-Marie-Tooth type 4H
Panel: 1 Complete sequencing of gene FGD4
DNA
Charcot-Marie-Tooth type 4J
Panel: 1 Complete sequencing of gene Fig4
DNA
Risk of schizophrenia; frontal function
Panel: 1 Val158Met polymorphism in COMT gene
DNA
Frontotemporal dementia
Panel: 1 Complete sequencing of MAPT gene (TAU)
DNA
Analysis of mutation L113P in PSEN1 gene
DNA TAT: 2 weeks Conservation: 4ºC
Analysis of large deletions by MLPA in MAPT gene
DNA
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Frontotemporal lobar degeneration GRN related
Panel: 1 Complete sequencing of PGRN gene (GRN)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 Analysis of large deletions by MLPA in PGRN gene (GRN)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Roussy-Levy hereditary areflexic distasia
DNA
Complete sequencing of gene PMP22
DNA
Dystonia type 1, early-onset torsion dystonia
Panel: 1 Analysis of gene deletion DYT1 GAG (TOR1A)
DNA
Panel: 2 Complete sequencing of gene DYT1 (TOR1A)
DNA
Dystonia dopa-responsive (DYT5)
Panel: 1 Complete sequencing of gene GCH1
DNA
Myoclonic dystonia
Panel: 1 Complete sequencing of gene SGCE
DNA
Complete sequencing of DRD2 gene
DNA
Dystonia-parkinsonism, rapid onset; DYT12
Panel: 1 Complete sequencing of gene ATP1A3
DNA
Neurodegeneration with brain iron accumulation 2A; infantile neuroaxonal dystrophy type 1
Panel: 1 Complete sequencing of gene PLA2G6
DNA
Septo-optic dysplasia
Panel: 1 Complete sequencing of gene HESX1
DNA
TAT: 4 weeks
Conservation: 4ºC
Alexander disease
Panel: 1 GFAP gene sequencing
DNA
Coats disease
Panel: 1 Complete sequencing of NDP gene
DNA
Creutzfeldt-Jakob disease
Panel: 1 Analysis of M129V and T174M polymorphism on the PRND DNA
TAT: 10 days Conservation: 4ºC
Panel: 2 Complete sequencing of PRNP gene DNA
TAT: 2 weeks
Conservation: 4ºC
Pelizaeus-Merzbacher disease
Panel: 1 Analysis by MLPA deletions / duplications of PLP1 gene (SPG2) DNA
Panel: 2 Complete sequencing of gene PLP1 (SPG2) DNA
Pick disease of the brain, lobar atrophy
Panel: 1 Complete sequencing of gene PSEN1 DNA
Panel: 2 Sequencing exons 4, 5, 6 and 7 and 8 gene intron PSEN1 DNA
Complete sequencing of MAPT gene (TAU)
DNA
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Tay-Sachs disease
Panel: 1 1277insTATC mutations, 1421 +1 G> C, G269S HEXA gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene HEXA
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 3 Analysis of mutations + TATC1278, IVC12 +1, +1 IVS9, G269S, R247W and
R249W HEXA gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Generalized idiopathic epilepsy with febrile seizures type 1
Panel: 1 Complete sequencing of gene SCN1B DNA
Panel: 1 Complete sequencing of gene SCN1A DNA
Panel: 2 MLPA analysis of large gene deletions in SCN1A DNA
Panel: 1 Complete sequencing of gene GABRG2 DNA
Panel: 1 Complete sequencing of gene GABRD
DNA
Epileptic enceflopathy, early infantile
Panel: 1 Complete sequencing of gene SCN2A
DNA
Autosomal dominant lateral lobe temporal epilepsy
Panel: 1 Complete sequencing of gene LGI1
DNA
Epileptic encephalopaty, early infantile type 1
DNA
Severe myoclonic epilepsy of infance; Dravet syndrome
DNA
Panel: 2 MLPA analysis of large gene deletions in SCN1A
DNA
Myoclonus epilepsy of Unverricht and Lundborg
Panel: 1 Expansion of a dodecamer in CSTB gene (EPM1A)
DNA
Panel: 2 5 Analysis CSTB gene mutations: c.10G> C, c.67-1G> C, C.169-2A> G, C.202C> TY C.218_219delTC
DNA
Progressive myoclonus epilepsy with ataxia type 1B
Panel: 1 Complete sequencing of gene PRICKLE1 (EPM1B)
DNA
Myoclonus epilepsy type 2 of Lafora
Panel: 1 Complete sequencing of gene EPM2A
DNA
Complete sequencing of gene NHLRC1
DNA
Benign neonatal seizures type 1
Panel: 1 Complete sequencing of KCNQ2
DNA
Benign neonatal seizures type 2
Panel: 1 Complete sequencing of KCNQ3
DNA
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Juvenile myoclonic epilepsy; Janz syndrome
Panel: 1 Complete sequencing of EFHC1
DNA
Frontal lobe nocturnal epilepsy type 1
Panel: 1 Complete sequencing of gene CHRNA4
DNA
Frontal lobe nocturnal epilepsy type 3
Panel: 1 Complete sequencing of gene CHRNB2
DNA
Amyotrophic lateral sclerosis type 1
Panel: 1 Complete sequencing of SOD1 gene
DNA
Panel: 1 Complete sequencing of SETX gene
DNA
Panel: 1 Complete sequencing of gene FUS
DNA
Panel: 1 Complete sequencing of gene ANG
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene TARDBP
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Schizophrenia, susceptibility
DNA
TAT: 2 weeks
Conservation: 4ºC
Hydrocephalus due to congenital stenosis of aqueduct of Sylvious
DNA
DNA
Deafness autosomal recessive type 9
Panel: 1 Sequencing of exons 11 and 21 of gene OTOF
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene OTOF
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Holoprosencephaly type 3
Panel: 1 Complete sequencing of gene SHH
DNA
Panel: 1 Complete sequencing of gene ZIC2
DNA
Panel: 1 Complete sequencing of gene SIX3
DNA
Panel: 1 Complete sequencing of gene TGIF1
DNA
Holoprosencephaly pannel
OMIM Phenotype: 142945; 609637;157170; 142946
OMIM Gene/Locus: 600725; 603073; 603714; 602630
Panel: 1 Analysis of deletions / duplications by MLPA of genes SHH, ZIC2,
SIX3 and TGIF1
DNA
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Leukoencephalopathy with vanishing white matter
Panel: 1 Complete sequencing of gene EIF2B1
DNA
Complete sequencing of gene EIF2B2
DNA
DNA
DNA
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Megalencehalic leukoencephalopathy with subcortical cysts; Van der Knaap disease
Panel: 1 Complete sequencing of gene MLC1
DNA
Neuronal ceroid lipofuscinosis type 1
Panel: 1 Complete sequencing of gene PPT1 (CLN1)
DNA
Panel: 2 Mutation Analysis and R151X gene R122W PPT1
DNA
Panel: 1 Complete sequencing of gene TPP1 (CLN2)
DNA
Panel: 2 Mutation Analysis IVS5-1G> C, R208X gene TPP1 (CLN2)
DNA
Panel: 1 Complete sequencing of gene CLN3
DNA
Neuronal ceroid lipofuscinosis type
DNA
DNA
DNA
Lissencephaly type 1
Panel: 1 Complete sequencing PAFAH1B1 gene (LIS1)
DNA
Panel: 2 Analysis of duplications / deletions by MLPA - PAFAH1B1 (LIS1)
DNA
Lissencephaly type 3
Panel: 1 Complete sequencing of gene TUBA1A
DNA
Lissencephaly X-linked type 1
Panel: 1 Complete sequencing of gene DCX
DNA
Lissencephaly X-linked type 1
Panel: 2 Analysis of duplications / deletions by MLPA in DCX gene
DNA
Lissencephaly X linked type 2, with ambiguous genitalia
DNA
Miller-Dieker lissencephaly
OMIM Gene/Locus: Panel: 1 17p13 deletions Analysis
DNA
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Familial hemiplegic migraine type 1
Panel: 1 Complete sequencing of gene CACNA1A (FHM1)
DNA
Panel: 1 Complete sequencing of gene ATP1A2 (FHM2)
DNA
Panel: 1 Complete sequencing of gene SCN1A (FHM3)
DNA
Neurodegeneration associated to pantothenate kinase type 1. Hallervorden-Spatz disease
Panel: 1 Complete sequencing of gene PANK2
DNA
Neurodegeneration with brain iron accumulation type 2A; Seitelberger disease
Panel: 1 Complete sequencing of gene PLA2G6
DNA
Panel: 2 OMIM Gene/Locus: 606157; 603604
Analysis of duplications / deletions by MLPA and PLA2G6 genes PANK2
DNA
Congenital hypomyelinating neuropathy
DNA
Polyneuropathy familial recurrent with pressure palsies
Panel: 1 Analysis 17p11.2 deletion in PMP22 gene
DNA
DNA
Progressive supranuclear palsy type 1
Panel: 1 Complete sequencing of MAPT gene (TAU)
DNA
Familial spastic paraplegia X-linked type 1; Masa syndrome
Panel: 1 Complete sequencing of gene L1CAM (SPG1)
DNA
DNA
Familial spastic paraplegia X-linked type 2
Panel: 1 Complete sequencing of gene PLP1 (SPG2)
DNA
Panel: 2 Analysis PLP1 gene duplications (SPG2) by MLPA
DNA
Panel: 3 Analysis PLP1 gene duplications (SPG2) by MLPA
DNA
Familial spastic paraplegia autosomal dominant type 3
Panel: 1 Complete sequencing of gene SPG3A (ATL1)
DNA
Panel: 2 Analysis of deletions by MLPA SPG3A
DNA
Panel: 1 Complete sequencing of gene SPAST
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of deletions by MLPA SPAST
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene NIPA1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 SPG 6 - Analysis of Union
DNA
TAT: 5 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of KIAA0196 gene
DNA
TAT: 9-12 weeks
Conservation: 4ºC
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214
Panel: 1 Complete sequencing of gene KIF5A
DNA
Panel: 1 Complete sequencing of gene HSPD1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene REEP1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene ZFYVE27
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Spastic paraplegia type 17, with amyothrophy of hansd and feet
Panel: 1 Complete sequencing of SPG17 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Spastic paraplegia type 7, autosomal recessive
Panel: 1 Complete sequencing of gene PGN (PARAPLEGIN)
DNA
TAT: 5 weeks
Conservation: 4ºC
Spastic paraplegia type 5A, autosomal recessive
Panel: 1 Complete sequencing of CYP7B1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of KIAA1840 gene (SPG11)
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing ZFYVE26 gene (SPG15)
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of SPG20 gene (Spartin)
DNA
Spastic paraplegia type 21, autosomal recessive; Mast syndrome
Panel: 1 Complete sequencing of SPG21 gene (MASPARDIN)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene GJA12 (GJC2)
DNA
TAT: Please inquire
Conservation: 4ºC
Parkinson dominant Lewy body (park1/park4)
OMIM Phenotype: 168601/605543
Panel: 1 Complete sequencing of SNCA gene
DNA TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Analysis of duplications / deletions by MLPA - SNCA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 3 Analysis of exons 3 and4 of gene SNCA
DNA
TAT: 2 weeks
Conservation: 4ºC
Dopa-responsive dystonia; Segawa syndrome
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Juvenile Parkinson disease, recessive type 2
Panel: 1 Complete sequencing of gene PARK2
DNA
TAT: 3 weeks
Conservation: 4ºC
Panel: 2 Analysis of duplications / deletions by MLPA in PARK2 gene
DNA
TAT: 3 weeks
Conservation: 4ºC
Parkinson disease type 6
Panel: 1 Complete sequencing of PINK1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 G309D mutation Analysis in PINK1
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Survey of mutations in exons 31 and 41 of LRRK2 gene and exon 4 PINK1
DNA
TAT: 2 weeks
Conservation: 4ºC
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216
Panel: 1 Complete sequencing of gene DJ1
DNA
Panel: 1 Complete sequencing of LRRK2 gene
DNA
TAT: 12-16 weeks
Panel: 2 Screening of LRRK2 mutations
DNA
TAT: 4 weeks
Panel: 3 Analysis of mutations in exon 41 of gene LRRK2
DNA
TAT: 2-3 weeks
Panel: 4 Analysis of mutation G2019S in gene LRRK2
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Hereditary amyloidosis transthyrretin related; familial amyloid polyneuropathy
Panel: 1 Complete sequencing of TTR gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Mental retardation
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Analysis of subtelomeric regions
DNA
TAT: 2 weeks
Conservation: 4ºC
Mental retardation
OMIM Phenotype: Panel: 1 CGH arrays
DNA
Conservation: 4ºC
OMIM Gene/Locus: TAT: 5 weeks
Mental retardation X-linked, ARX-related
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Mental retardation X-linked, syndromic and Lubs type
Panel: 1 Complete sequencing of MECP2 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Mental retardation X-linked, type 19
Panel: 1 Complete sequencing of gene RSK2 (RPS6KA3)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Mental retardation X linked with cerebellar hypoplasia and distinctive facies
Panel: 1 Complete sequencing of gene OPHN1
DNA
Mental retardation X linked syndromic hedera type
Panel: 1 Complete sequencing of gene ATP6AP2
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Aicardi-Goutieres syndrome type I
Panel: 1 Complete sequencing of gene TREX1
DNA
TAT: Please inquire
Conservation: 4ºC
Aicardi-Goutieres syndrome type II
Panel: 1 Complete sequencing of gene RNASEH2B
DNA
TAT: Please inquire
Conservation: 4ºC
Aicardi-Goutieres syndrome type III
Panel: 1 Complete sequencing of gene RNASEH2C
DNA
TAT: Please inquire
Conservation: 4ºC
Aicardi-Goutieres syndrome type IV
Panel: 1 Complete sequencing of gene RNASEH2
DNA
TAT: Please inquire
Conservation: 4ºC
Agenesis of the corpus callosum with peripheral neuropathy; andermann syndrome
Panel: 1 Sequencing of exons 11, 15, 18 and 22 of SLC12A6 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of SLC12A6 gene
DNA
TAT: 8-10 weeks
Conservation: 4ºC
CHARGE syndrome
Panel: 1 Complete sequencing of CHD7 gene
DNA
TAT: 9-12 weeks
Conservation: 4ºC
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218
Cockayne syndrome type A
Panel: 1 Complete sequencing of gene ERCC8
DNA
Cockayne syndrome type B
Panel: 1 Complete sequencing of gene ERCC6
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Coffin-Lowry syndrome
Panel: 1 Complete sequencing of gene RSK2 (RPS6KA3)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of large deletions in gene RSK2 (RPS6KA3)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Cohen syndrome
Panel: 1 Complete sequencing of COH1 gene (VPS13B)
DNA
TAT: 16-20 weeks
Conservation: 4ºC
Panel: 2 Mutation analysis delCT 3348_3349; 9258_9259 Ile2820Thr INST and gene COH1 (VPS13B)
DNA
TAT: Please inquire
Conservation: 4ºC
Crash syndrome
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 Analysis by MLPA deletion / duplication SPG1 gene (L1CAM)
DNA
TAT: 4 weeks
Conservation: 4ºC
Harp syndrome
Panel: 1 Complete sequencing of gene PANK2
DNA
Marinesco-Sjogren syndrome
Panel: 1 SIL1 gene sequencing
DNA
Mowat-Wilson syndrome
Panel: 1 Complete sequencing of gene ZEB2 (ZFHX1B)
DNA
Panel: 2 MLPA analysis of large deletions in gene ZEB2
DNA
Partington X linked mental retardation syndrome
DNA
Pendred syndrome
Panel: 1 SLC26A4 gene mutations Screening 3
DNA
DNA
Prader-Willi & Angelman
Panel: 1 Analysis SNRPN gene methylation
DNA
Panel: 2 Analysis of methylation in genomic region for detecting PWS uniparental
disomy
DNA
Rett syndrome
Panel: 1 Complete sequencing of MECP2 gene
DNA
Panel: 2 MLPA analysis of large deletions in MECP2 gene
DNA
Angelman-Like syndrome
DNA
Rett syndrome, congenital variant
Panel: 1 FOXG1 gene sequencing
DNA
219
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220
220
Smith-Lemli-Opitz syndrome
Panel: 1 Complete sequencing of gene DHCR7
DNA
Panel: 2 Analysis of 12 common mutations (includes Phe302Leu and DHCR7 gene
Arg446Gln)
DNA
Syndrome, hyperekplexia type 1; Startle syndrome
Panel: 1 Gene sequencing GLRA1
DNA
Sotos syndrome
Panel: 1 Complete sequencing of gene NSD1
DNA
Panel: 2 MLPA analysis of large deletions in NSD1 gene
DNA
Rubinstein-Taybi syndrome type 1
Panel: 1 Complete sequencing of CREBBP gene
DNA
TAT: 4 months Conservation: 4ºC
Panel: 2 MLPA analysis of large deletions in CREBBP
DNA
Rubinstein-Taybi syndrome type 2
Panel: 1 Complete sequencing of gene EP300
DNA
Usher syndrome type 1
Panel: 1 Complete sequencing of gene MYO7A
DNA
Usher syndrome type 1D
Panel: 1 Complete sequencing of gene CDH23
DNA
Usher syndrome type 1D/F digenic
Panel: 1 Complete sequencing of gene PCDH15
DNA
Usher syndrome type 1C
Panel: 1 Complete sequencing of gene USH1C
DNA
Usher syndrome type 1G
Panel: 1 Complete sequencing of gene USH1G
DNA
Usher syndrome type 2A
Panel: 1 Sequencing exons 1 to 21 USH2A gene (isoform A)
DNA
Panel: 2 Sequencing USH2A remaining exons (isoform B)
DNA
Usher syndrome type 2C
Panel: 1 Complete sequencing of gene GPR98 (VLGR1)
DNA
Usher syndrome type 2D
Panel: 1 Complete sequencing of gene whrn (DFNB31)
DNA
Screening of most common mutations of gene USH2A
DNA
Usher syndrome type 3A
Panel: 1 Complete sequencing of gene CLRN1
DNA
Waardenburg syndrome type 1 and 3
Panel: 1 Complete sequencing of gene PAX3
DNA
Panel: 2 MLPA analysis of large deletions in gene PAX3
DNA
221
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Human Genetics
222
222
Waardenburg syndrome type 2A
Panel: 1 Complete sequencing of MITF gene
DNA
Panel: 2 MLPA analysis of large deletions in MITF gene
DNA
Epileptic encephalopathy, early infantile; type 1 West syndrome
DNA
Epileptic encephalopathy, early infantile; type 2
DNA
Fragile X mental retardation syndrome
Panel: 1 PCR-screening of CGG triplet expansion - FMR1 gene
DNA
Mental retardation X-linked associated with Fragil site fraxe
Panel: 1 PCR-screening of CGG triplet expansion - FMR2 gene
DNA
Deafness autosomal recessive type 1A
Panel: 1 Analysis of 35delG mutation in GJB2 (connexin 26)
DNA
DNA
Panel: 3 Survey of mutations GJB2 (connexin 26) and mitochondrial DNA A1555G
DNA
Nonsyndromic sensorineural mitochondrial deafness
Panel: 1 Analysis of gene A1555G mutation MTRNR1
DNA
Deafness autosomal recessive type 1B and 3B
DNA
Ausosomal recessive deafness pannel
OMIM Phenotype: 220290; 612643; 601071; 500008
OMIM Gene/Locus: 121011; 604418; 603681; 561000 Panel: 1 Screening genes GJB2, GJB6 and OTOF
DNA
Panel: 2 Analysis of GJB2 mutations (Connexin 26), and mitochondrial DNA OTOF
DNA
Deafness autosomal recessive type 4 with enlarged vestibular aqueduct
DNA
Deafness autosomal recessive type 9
Panel: 1 Complete sequencing of gene OTOF
DNA
Deafness autosomal recessive type 8 and 10
Panel: 1 Complete sequencing of gene TMPRSS3 (DFNB8/B10)
DNA
Nonsyndromic sensorineural deafness autosomal dominant type 2B
Panel: 1 Complete sequencing GJB3 gene (connexin 31)
DNA
Nonsyndromic sensorineural deafness autosomal dominant type 3A
DNA
Panel: 2 Analysis of mutations in gene GJB2
DNA
Nonsyndromic sensorineural deafness autosomal dominant type 3A
DNA
Panel: 2 Analysis of mutations in gene GJB6
DNA
223
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224
Deafness autosomal dominant types 6, 14 and 38
Panel: 1 Complete sequencing of WFS1 gene
DNA
Deafness autosomal dominant type 9
Panel: 1 Analysis of mutation in gene P51S COCH
DNA
Panel: 2 Complete sequencing of gene COCH
DNA
Deafness autosomal dominant type 13 and autosomal recessive 53
Panel: 1 Complete sequencing of gene COL11A2
DNA
Panel: 1 Complete sequencing of MYH9 gene
DNA
DNA
11.- Genetic diagnosis of neurological diseases Volume, sample: 5-10 ml Blood-EDTA
Achromatopsia type 2
Complete sequencing of gene CNGA3
DNA
Panel: 1 Complete sequencing of gene CNGB3
DNA
Panel: 1 Complete sequencing of gene GNAT2
DNA
Achromatopsia type 5; cone dystrophy type 4
OMIM Phenotype: 613093 OMIM Gene/Locus: 600827 Panel: 1 Complete sequencing of gene PDE6C
DNA
Acrodermatitis enteropathica
OMIM Phenotype: OMIM Gene/Locus: 201100
DNA
Optic atrophy type 3; optic atrophy and cataracts
Panel: 1 Complete sequencing of gene OPA3
DNA
Macular corneal dystrophy type 1
Panel: 1 Complete sequencing of gene CHST6
DNA
Macular degeneration age
OMIM Gene/Locus: 134371; 605336; 138470; 613927; 611313
Panel: 1 Analysis of genes IPLEX CFH, CFB, C2, ARMS2
DNA
Age-related macular degeneration 6
OMIM Gene/Locus:
Panel: 1 Complete sequencing of gene PAX2
DNA
TAT: Conservation: 4ºC
Stargardt disease type 1; fundus flavimaculatus
Panel: 1 Complete sequencing of gene ABCA4
DNA
Complete sequencing of gene CNGB3
DNA
Array genotyping. Panel of 558 most frequent mutations ABCA4 gene
DNA
225
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226
226
Stargardt disease type 3
OMIM Phenotype: 600110 OMIM Gene/Locus: 605512 Panel: 1 Complete sequencing of gene ELOVL4
DNA
Stargardt disease type 4
Panel: 1 Complete sequencing of gene PROM1
DNA
Stickler syndrome type 1
DNA
DNA
DNA
Stickler syndrome type 4 (autosomal recessive)
DNA
Wagner syndrome type 1
Panel: 1 Complete sequencing of gene VCAN
DNA
Enhanced S-cone syndrome; Goldman-Favre syndrome
Panel: 1 Complete sequencing of NR2E3
DNA
Leber congenital amaurosis type 1
Panel: 1 Complete sequencing of gene GUCY2D
DNA
OMIM Phenotype: 204100 Panel: 1 OMIM Gene/Locus: 180069 Complete sequencing of gene RPE65
DNA
Panel: 1 Complete sequencing of AIPL1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene RPGRIP1
DNA
Panel: 1 Complete sequencing of gene CRX
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of CRB1 gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
DNA
Panel: 1 Complete sequencing of gene RDH12
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Leber congenital amaurosis types 2, 4, 7 and 8 pannel
OMIM Phenotype: 204100; 604393; 613829; 613835
OMIM Gene/Locus: 180069; 604392; 602225; 604210
Panel: 1 Analysis by MLPA large deletions of genes RPE65, AIPL1, CRX and CRB1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Leber congenital amaurosis types 1, 6, 10 and 13 pannel
OMIM Phenotype: 204000; 613826; 611755; 612712
OMIM Gene/Locus: 600179; 605446; 610142; 608830
Panel: 1 Analysis by MLPA large deletions of genes GUCY2D, RPGRIP1, CEP290 RDH12
DNA
TAT: 3-4 weeks
Conservation: 4ºC
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228
Aniridia
OMIM Phenotype: 106210 OMIM Gene/Locus: 607108 Panel: 1 Complete sequencing of PAX6 gene
DNA
Anophthalmia / microphthalmia syndromic type 3
Panel: 1 Complete sequencing of SOX2 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of deletions by MLPA - SOX2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Microphthalmia with cataract type 2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Analysis of deletions by MLPA - PAX6
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Microphthalmia with coloboma type 3
Panel: 1 Complete sequencing of gene VSX2 (CHX10)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Microftalmia isolated type 3
Panel: 1 Complete sequencing of gene RAX
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Anophthalmia / microphthalmia syndromic type 5
Panel: 1 Complete sequencing of gene OTX2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Microphthalmia with coloboma type 5
Panel: 1 Complete sequencing of gene SHH
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Complete sequencing of gene SIX3
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Analysis of deletions by MLPA - SIX3 and SHH
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Optic atrophy type 1, autosomal dominant
OMIM Phenotype: 165500 OMIM Gene/Locus: 605290 Panel: 1 Complete sequencing of gene OPA1
DNA
Panel: 2 MLPA analysis of large gene deletions OPA1
DNA
Blepharophimosis, ptosis and epicanthus inversus
Panel: 1 Complete sequencing of FOXL2 gene
DNA
Choroideremia
Panel: 1 MHC gene sequencing
DNA
Cone-rod distrophy type 3
Panel: 1 Analysis of mutations R943Qdel and 2888delG of ABCA4 gene
DNA
Panel: 2 Analysis of mutations R1640W, N380K, L2060R and 5041del 15 bp of ABCA4 gene
DNA
Corneal distrophy
OMIM Phenotype: 607541; 121820; 121900; 122200; 608471; 608470; 602082
Panel: 1 Analysis of exons 4, 11, 12, 13, 14 TGFBI gene (BIGH3)
DNA
Panel: 2 Analysis of mutations in exon 12 (R555) gene TGFBI
DNA
Panel: 3 Complete sequencing of TGFBI gene (BIGH3)
DNA
Best vitelliform macular dystrophy
Panel: 1 Complete sequencing BEST1 gene (VMD2)
DNA
Sorsby fundus dystrophy
Panel: 1 Complete sequencing of gene TIMP3
DNA
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230
Norrie disease
OMIM Phenotype: 310600 OMIM Gene/Locus: 300658 Panel: 1 Complete sequencing of NDP gene
DNA
Fundus albipunctatus. stationary night blindness
Panel: 1 Complete sequencing of gene RDH5
DNA
Choroidal dystrophy, central areolar type 2
Panel: 1 Complete sequencing of gene RDS (PRPH2)
DNA
Congenital primary glaucoma type 3
DNA
Primary glaucoma 1 , open angle type e
Panel: 1 Complete sequencing of gene OPTN
DNA
Primary glaucoma 1, open angle type a
Panel: 1 Complete sequencing of gene MYOC
DNA
Primary glaucoma pannel
OMIM Phenotype: 231300; 137760; 137750
OMIM Gene/Locus: 601771; 602432; 601652
Panel: 1 Panel of congenital glaucoma: CYP1B1, OPTN and MYOC
DNA
Exfoliation glaucoma
Panel: 1 R141L and analysis of polymorphisms in gene G153D LOXL1
DNA
Panel: 2 Complete sequencing of gene LOXL1
DNA
Leber hereditary optic neuropathy
OMIM Phenotype: 535000 OMIM Gene/Locus: 516000; 516003; 516006
Panel: 1 G11778A mutation Analysis, T14484C and G3460A in mtDNA
DNA
Panel: 2 OMIM Gene/Locus: 516000; 516005; 516020
Mutations T4216C, G13708A and G15257A in mtDNA
DNA
Panel: 3 OMIM Gene/Locus: 516000; 516001; 516003; 516004; 516005
Complete sequencing of genes MT-7 ND
DNA
Complete sequencing of 3 genes MT-CO
DNA
Complete sequencing of genes and MT-MT-ATP8 ATP6
DNA
Complete sequencing of gene MT-CYB
DNA
Neuropathy, ataxia and retinitis pigmentosa, NARP syndrome
Panel: 1 MTATP6 gene mutation T8993G
DNA
Panel: 2 T8993G mutation Analysis and gene T8993C MTATP6
DNA
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
dominant type 1
Panel: 1 Complete sequencing of gene POLG
DNA
Panel: 2 POLG gene mutation Y955C
DNA
Analysis of large deletions / duplications by MLPA elmtDNA
DNA
Panel: 4 Analysis of mutations A3243G, T3250C, G3316A in mtDNA tRNA
DNA
Panel: 5 Complete sequencing of 22 mtDNA tRNA genes
DNA
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232
dominant type 2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
dominant, 3
Panel: 1 Complete sequencing of gene C10ORF2 (TWINKLE)
DNA
Peters anomaly
Panel: 1 Complete sequencing of gene PITX2
DNA
Multiple pterygium syndrome
Panel: 1 Gene sequencing CHRNG
DNA
Keratoconus type 1
Panel: 1 Complete sequencing of gene VSX1
DNA
Retinitis pigmentosa type 1, autosomal dominant
Panel: 1 2280del5 mutation Analysis and gene Arg677stop RP1
DNA
Panel: 2 Complete sequencing of gene RP1
DNA
Retinitis pigmentosa type 4, autosomal dominant or recessive
Panel: 1 Complete sequencing of RHO gene
DNA
Panel: 1 Complete sequencing of gene PRPH2
DNA
Panel: 1 Complete sequencing of gene PRPF31
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Retinitis pigmentosa type 12, autosomal recessive
Panel: 1 Complete sequencing of CRB1 gene (RP12)
DNA
Panel: 1 Complete sequencing of gene ABCA4 (RP19)
DNA
Panel: 1 Complete sequencing of RPE65 gene (RP20)
DNA
retinitis pigmentosa type 26, autosomal recessive
Panel: 1 Complete sequencing of gene CERKL (RP26)
DNA
Panel: 1 Sequencing exons 1 to 21 of gene USH2A
DNA
Panel: 1 Complete sequencing of gene PDE6B
DNA
Panel: 1 Complete sequencing of gene PDE6A
DNA
Retinitis pigmentosa X-linked, type 2
Panel: 1 Complete sequencing of gene RP2
DNA
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234
Retinitis pigmentosa X-linked, type 3
Panel: 1 Complete sequencing of gene RPGR (RP3)
DNA
Retinitis punctata albescens
Panel: 1 Complete sequencing of gene RLBP1
DNA
Retinoblastoma
Panel: 1 Complete sequencing and MLPA RB1 gene
DNA
Panel: 2 Complete sequencing of RB1 gene
DNA
Panel: 3 Analysis of deletions / duplications in RB1 by MLPA
DNA
X-linked retinoschisis, juvenile
Panel: 1 Complete sequencing XLRS1 gene (RS1)
DNA
Panel: 2 Analysis of mutations (E72K, G74V, G109R) RS1 gene
DNA
Septooptic dysplasia ; Morsier syndrome
DNA
Peters plus syndrome
Panel: 1 Screening mutation c.660 +1 G> A in gene B3GALTL
DNA
Panel: 2 Screening mutations other B3GALTL
DNA
Panel: 3 Complete sequencing of gene B3GALTL
DNA
Familial exudative vitreoretinopathy, autosomal dominant
Panel: 1 Complete sequencing of gene FZD4
DNA
Exudative vitreoretinopathy type 4
Panel: 1 Complete sequencing of LRP5 gene
DNA
Genetic diagnosis of renal diseases
and tubulopathies
Intrahepatic neonatal cholestasis, citrullinemia, type II
DNA
Bardet-Biedl syndrome
Panel: 1 Complete sequencing of gene BBS4
DNA
Complete sequencing of gene BBS7
DNA
Complete sequencing MKS1 gene (BBS13)
DNA
Complete sequencing of gene B1 (BBS9)
DNA
Complete sequencing of gene TTC8 (BBS8)
DNA
Complete sequencing of gene ARL6 (BBS3)
DNA
Complete sequencing of gene BBS5
DNA
Complete sequencing of gene TRIM32 (BBS11)
DNA
Complete sequencing of gene CEP290 (BBS14)
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Distal renal tubular acidosis autosomal recessive, with hemolytic anemia
DNA
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Human Genetics
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236
Distal renal tubular acidosis autosomal dominant
DNA
Distal renal tubular acidosis with deafness
Panel: 1 Complete sequencing of gene ATP6V1B1
DNA
Distal renal tubular acidosis autosomal recessive
Panel: 1 Complete sequencing of gene ATP6V0A4
DNA
Proximal renal tubular acidosis; with ocular abnormalities
DNA
Renal agenesis
Panel: 1 Complete sequencing of RET gene
DNA
Complete sequencing of UPK3A gene
DNA
Cystinosis
Panel: 1 Complete sequencing of CTNS gene
DNA
Panel: 2 Sequencing and gene deletion study of CTNS
DNA
Cystinuria
Panel: 1 Complete sequencing of SLC3A1 gene (RBAT)
DNA
Complete sequencing of SLC7A9 gene
DNA
and tubulopathies
237
Cholestasis, progressive familial intrahepatic, type 1
Panel: 1 Complete sequencing of gene ATP8B1 (FIC1)
DNA
Panel: 2 ATP8B1 gene. Mutation I661T
DNA
Cholestasis, progressive familial intrahepatic, type 2
Panel: 1 Complete sequencing of gene ABCB11 (BSEP)
DNA
Diabetes insipidus, nephrogenic, autosomal recessive
Panel: 1 Complete sequencing of AQP2 gene
DNA
Diabetes insipidus, nephrogenic, X-linked
Panel: 1 Complete sequencing of gene AVPR2
DNA
Panel: 2 Sequencing of exons 2 and 3 AVPR2 gene
DNA
Polycystic liver disease
Panel: 1 Complete sequencing of gene PRKCSH
DNA
Benign familial haematuria
DNA
Complete sequencing of COL4A4 gene
DNA
Family hipomagnesémica with hypercalciuria
Panel: 1 Complete sequencing of gene CLDN16
DNA
Human Genetics
Human Genetics
Human Genetics
and tubulopathies
Human Genetics
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238
Hypomagnesemia 5, renal, with ocular involvement
Panel: 1 Complete sequencing of gene CLDN19
DNA
Renal hypomagnesemia
Panel: 1 Complete sequencing of gene FXYD2
DNA
Hypomagnesemia with secondary hypocalcemia
Panel: 1 Complete sequencing TRPM6 gene
DNA
Nephronophthisis type 1
DNA
Panel: 2 Complete sequencing of gene NPHP1
DNA
Nephronophthisis type 2, infantile
Panel: 1 Complete sequencing NPHP2 gene (INVS)
DNA
Nephronophthisis type 3
DNA
Nephronophthisis type 4, juvenile
DNA
Hyperuricemic nephropathy, familial juvenile
Panel: 1 Complete sequencing of gene UMOD
DNA
and tubulopathies
239
Osteopetrosis with renal tubular acidosis
Panel: 1 Complete sequencing of gene CA2
DNA
Autosomal dominant polycystic kidney
OMIM Phenotype: 173900; 613095 OMIM Gene/Locus: 601313
Panel: 1 Complete sequencing of PKD1 gene
DNA
Complete sequencing of genes PKD1 and PKD2
DNA
Complete sequencing of gene PKD2
DNA
Infantile recessive polycystic kidney disease
Panel: 1 Sequencing exons 15, 22, 27, 50, 55 and 59 of gene PKHD1
DNA
Panel: 2 Analysis of mutations in exons 3, 9, 16, 22, 24, 27, 30, 32, 34, 36, 37, 43, 50, 53, 54, 57, 58, 60, 61 in PKHD1 gene
DNA
Panel: 3 Analysis of mutations in exons 3, 9, 16, 22, 24, 27, 30, 32, 34, 36, 37, 43, 50,
53, 54, 57, 58, 60, 61 in PKHD1 gene
DNA
Panel: 4 Sequencing of remaining exons PKHD1
DNA
Panel: 5 Complete sequencing of gene PKHD1
DNA
Pseudohypoaldosteronism, type I, autosomal recessive
Panel: 1 Complete sequencing of gene SCNN1A
DNA
Complete sequencing of gene SCNN1B
DNA
Complete sequencing of gene SCNN1G
DNA
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and tubulopathies
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240
Pseudohypoaldosteronism, type I, autosomal dominant
Panel: 1 Complete sequencing of gene NR3C2
DNA
Pseudohypoaldosteronism, type IIB
Panel: 1 Complete sequencing of gene WNK4
DNA
Pseudohypoaldosteronism, type IIC
Panel: 1 Complete sequencing of WNK1 gene
DNA
Hypophosphatemic rickets, autosomal dominant
Panel: 1 FGF23 gene sequencing
DNA
Hypophosphatemic rickets, X-linked dominant
Panel: 1 Complete sequencing of PHEX gene
DNA
Panel: 2 MLPA analysis of deletions and duplications in PHEX
DNA
Alport syndrome, autosomal recessive
OMIM Phenotype: 203780 OMIM Gene/Locus: 120070; 120131
DNA
DNA
Alport syndrome, X-linked
DNA
Panel: 2 MLPA analysis of deletions and duplications of gene COL4A5
DNA
and tubulopathies
241
Bartter syndrome, antenatal, type 1
DNA
Bartter syndrome, antenatal, type 2
Panel: 1 Complete sequencing of gene KCNJ1
DNA
Panel: 2 Sequencing of exon 2 of gene KCNJ1
TAT: Conservation:
Bartter syndrome, classic, type 3
Panel: 1 Complete sequencing of gene CLCNKB
DNA
Panel: 2 Sequencing of exon 7 of gene CLCNKB
DNA
Panel: 3 MLPA analysis of large deletions in CLCNKB
DNA
Neonatal Bartter syndrome with deafness, type 4A
Panel: 1 Complete sequencing of gene BSND
DNA
Dent syndrome 1 / nefroliatitis hypercalciuric / urolithiasis, X-linked
Panel: 1 Complete sequencing of gene CLCN5
DNA
Fanconi-Bickel syndrome
DNA
Fanconi syndrome mitochondrial origin, mitochondrial complex III/IV deficiency
OMIM Phenotype: 124000; 220110 OMIM Gene/Locus: 124000; 220110
Panel: 1 Sequencing genes Complexes III and IV
DNA
Human Genetics
Human Genetics
Human Genetics
and tubulopathies
Human Genetics
242
242
Gitelman syndrome
DNA
Panel: 2 MLPA analysis of large deletions in SLC12A3
DNA
Liddle’s syndrome; pseudoaldosteronismo
Panel: 1 Complete sequencing of gene SCNN1B
DNA
Complete sequencing of gene SCNN1G
DNA
Lowe syndrome
Panel: 1 Complete sequencing of gene OCRL
DNA
Nail-Patella syndrome
Panel: 1 Complete sequencing of gene LMX1B
DNA
Nephrotic syndrome, type 1
Panel: 1 Complete sequencing of NPHS1 gene
DNA
Panel: 2 Sequencing of the NPHS1 gene coding region
DNA
Nephrotic syndrome, type 2
Panel: 1 Complete sequencing of gene NPHS2
DNA
Pierson syndrome
Panel: 1 Complete sequencing of gene LAMB2
DNA
and tubulopathies
243
Early onset nephrotic syndrome
Panel: 1 Complete sequencing of WT1 gene
DNA
Polycystic kidney disease, adult, autosomal dominant, type 1
Panel: 1 Complete sequencing of PKD1 gene
DNA
Polycystic kidney disease, adult, autosomal dominant,type 2
Panel: 1 Complete sequencing of gene PKD2
DNA
Senior-Loken syndrome type 1
DNA
DNA
DNA
Panel: 1 Complete sequencing of gene NPHP5 (IQCB1)
DNA
Panel: 1 Complete sequencing of gene NPHP6 (CEP290)
DNA
Nephrotic syndrome, type 5, with or without ocular abnormalities
Panel: 1 Complete sequencing of gene LAMB2
DNA
Human Genetics
Human Genetics
Human Genetics
and tubulopathies
Human Genetics
244
244
Renal syndrome coloboma
Panel: 1 Complete sequencing of PAX2 gene
DNA
Purple family thrombotic thrombocytopenia
Panel: 1 Complete sequencing of ADAMTS13 gene
DNA
Medullary cystic kidney disease 2
Panel: 1 Sequencing of exons 4, 5 and 6 of gene UMOD
DNA
Genetic diagnosis of reproductive diseases
Ovarian hyperstimulation syndrome
Panel: 1 Sequencing of exon 10 of FSHR gene
TAT: Conservation:
Panel: 2 Complete sequencing of FSHR gene
TAT: Conservation:
Ovarian failure, hypergonadotropic, due to ovarian dysgenesis
Panel: 1 Complete sequencing of gene BMP15
DNA
Gonadal dysgenesis
Panel: 1 Determination of presence or absence of SRY
DNA
TAT: 1 week Conservation: 4ºC
Panel: 2 Complete sequencing of SRY gene
DNA
46,XY gonadal dysgenesis
Panel: 1 Complete sequencing of gene NR5A1 (SF1)
DNA
Premature ovarian failure 1
Panel: 1 Analysis of FMR2 gene deletions
DNA
Male infertility: congenital bilateral absence of the vas deferens, CBAVD
Panel: 1 Polymorphism Analysis IVS8-Tn (poly-T) of CFTR gene
DNA
Panel: 2 Panel 30 of most common mutations in CFTR gene
DNA
Male infertility: azoospermia and oligospermia
OMIM Phenotype: 415000 OMIM Gene/Locus: 400005; 400003; 480000
Panel: 1 Analysis of 20 Y chromosome microdeletions in 20 STS located on long arm (AZFa, AZFb, AZFc and SRY)
DNA
Panel: 2 Analysis of Y chromosome microdeletions of AZFa, AZFb, AZFc, SRY (DAZ)
DNA
Male infertility: sperm DNA fragmentation
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Analysis percentage of fragmentation
DNA
Pregnancy loss recurrent, susceptibility
Panel: 1 Mutation G1691A (Arg506Gln) gene Factor V Leiden
DNA
TAT: 1 week Conservation:
G20210A mutation in gene of Prothrombin (Factor II)
DNA
C677T mutation (Ala222Val) and A1298C (Glu429Ala) in MTHFR
DNA
TAT: 1 week Conservation:
Leu33Pro polymorphism of platelet membrane glycoprotein (ITGB3)
DNA
TAT: 10 days Conservation:
4ºC
4ºC
4ºC
4ºC
245
Human Genetics
Human Genetics
Human Genetics
Genetic diagnosis pneumological diseases
Human Genetics
246
246
Sex determination
Panel: 1 Determination of presence or absence of SRY
DNA
Idiopathic pulmonary fibrosis
Panel: 1 Complete sequencing of TERT gene
DNA
Complete sequencing of TERC gene (TR)
DNA
Alpha-1 antitrypsin deficiency
Panel: 1 Variants with reduced Z and S moderate and mild, M2 and M1 (Ala) AAT gene
DNA
Primary ciliary dyskinesia 1; kartagener syndrome
Panel: 1 Complete sequencing of gene DNAI1
DNA
Primary ciliary dyskinesia 3
OMIM Phenotype: 608644 Panel: 1 Complete sequencing of gene DNAH5
DNA
Panel: 1 Complete sequencing of gene DNAH11
DNA
Panel: 1 Complete sequencing of gene DNAI2
DNA
Primary ciliary dyskinesia 1, 3
OMIM Phenotype: OMIM Gene/Locus: 604366; 603335
Panel: 1 Screening genes and DNAH5 DNAI1
DNA
Genetic diagnosis pneumological diseases
Interstitial lung disease
OMIM Phenotype: 265120; 610913; 610921 OMIM Gene/Locus: 178640
Panel: 1 Complete sequencing of gene SFTPB
DNA
Complete sequencing of gene SFTPC
DNA
Complete sequencing of gene ABCA3
DNA
Cystic fibrosis
Panel: 1 Complete sequencing of CFTR gene
DNA
DNA
Panel: 3 Analysis of 32 CFTR gene mutations Poli + T
DNA
Panel: 4 Analysis of 32 CFTR gene mutations in donor
DNA
Panel: 5 DF508 mutation of CFTR egn
DNA
Panel: 6 Screening for mutations in ACD difficult asthma control CFTR gene
DNA
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
Ondine-Hirschsprung syndrome; congenital central hypoventilation syndrome
Panel: 1 Poly-Ala expansion PHOX2B gene
DNA
Panel: 2 Complete sequencing of gene PHOX2B
DNA
Rapid prenatal diagnosis
of common chromosome aneuploidies
QF-PCR rapid diagnosis of trisomy 21, 18, 13 and sex chomosomes aneuploidies
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Analysis of aneuploidies by QF-PCR on chromosomes 13.18, 21, X and Y
DNA
247
Human Genetics
Human Genetics
Human Genetics
Pharmacogenetics
and treatment resistance
Human Genetics
248
248
Adenocarcinoma of lung and NSCLC; response to tyrosine kinase inhibitor
Panel: 1 Analysis by sequencing of exons 18-21 of EGFR gene (Gefitinib)
DNA
CYP2B6; poor metabolism of efavirenz
DNA
CYP2D6; drug toxicity
Panel: 1 Complete sequencing of gene CYP2D6 (treatment of psychiatric and cardiovascular diseases)
DNA
Panel: 2 Alleles * 3, * 4 and * 6 CYP2D6 gene
DNA
CYP2C9; coumarin, warfarin resistance
Panel: 1 Complete sequencing of CYP2C9 gene (for treatment of thrombosis, diabetes and various diseases)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
cyp2c19; poor metabolism of: mephenytoin, opremazole, proguanil, clopidogrel
Panel: 1 Complete sequencing of gene CYP2C19 (treatment of psychiatric illness, epilepsy, malaria and anesthesia)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Abacavir hypersensitivity
Panel: 1 Determination of haplotype HLA-B * 5701
DNA
Helicobacter pylori antibiotic resistance, claritromicine, metronidazol and tetracycline
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Analysis of A2143G mutation in 23S rRNA, and mutations in rRNA16S rdxA mutations
DNA
Pharmacogenetics and
treatment resistance
249
Intolerance to statins
Panel: 1 Identification of polymorphisms rs4149056 (Val174Ala) and rs2306283 (Asp130Asn) gene SLCO1B1
DNA
Chronic myeloid leukemia, CML; resistant to imatinib
Panel: 1 Mutation Analysis by sequencing of exons 4-10 of ABL gene, to Gleevec (Imatinib)
DNA
Acute myeloid leukemia
Panel: 1 Analysis of exons 8, 11 and 17 of KIT gene (CD117), for treatment with Gleevec (Imatinib)
DNA
Mutation Analysis by sequencing of exons 14 and 20 of FLT3 gene, including ASP835 (FLT3 inhibitors)
DNA
Mastocytosis
Panel: 1 Analysis of exon 17 of gene KIt(CD117) to treatment with Gleevec / Imatinib
DNA
Tumor risk exposure to carcinogenic aromatic and heterocyclic amines; bladder cancer,
colorectal, breast, head and neck and lung; slow acetylator phenotype
Panel: 1 Alleles * 3, * 4, * 10, * 11, * 14, * 15, * 17 and * 22, NAT1
DNA
* 5A alleles (C481T), * 6A (G590A), and * 7A (G857A), NAT2
DNA
Human Genetics
Human Genetics
Human Genetics
Pharmacogenetics and
treatment resistance
Human Genetics
250
250
5-fluorouracil toxicity
Panel: 1 2A allele determination (IVS14 +1 G-A) in DPD gene (exon 14)
DNA
Panel: 2 Sequencing of exons 2,4,6,7,10-13, 18, 19 and 21-23 DPYD gene
DNA
Panel: 3 Sequencing of remaining exons of gene DPYD
DNA
Panel: 4 Complete sequencing and gene DPYD genotyping TYMS gene (2R/2R, 2R/3R or 3R/3R)
DNA
Response to entacapone in parkinson’s disease
DNA
Toxicity irinotecan, UGT1A1
Panel: 1 Determination of insertion TA UGT1A1 gene promoter
DNA
Toxicity thiopurines, TPMT
Panel: 1 Determination of allele 1, 2, 3A and 3C TPMT gene
DNA
Panel: 2 Complete sequencing of TPMT gene
DNA
Molecular immunology
Gastrointestinal stromal tumor, GIST
Panel: 1 Analysis of exons 9, 11, 13 and 17 of KIT gene (CD117), treatment with Gleevec (Imatinib)
DNA
Mutation Analysis by sequencing of exons 12 and 18 of PDGFRA gene to Gleevec (Imatinib)
DNA
C3 complement deficiency, autosomal recessive
OMIM Phenotype: 613779 OMIM Gene/Locus: 120700 Panel: 1 Complete sequencing of C3 gene
DNA
Severe combined immunodeficiency; adenosine deaminase deficiency, (T-B-NK-)
Panel: 1 Complete sequencing of ADA gene
DNA
Severe combined immunodeficiency autosomal recessive, (T- B- NK +)
OMIM Gene/Locus: 179615; 179616 Panel: 1 Complete sequencing of genes RAG1 and RAG2
DNA
Severe combined immunodeficiency autosomal recessive, (T- B+ NK-)
Panel: 1 Complete sequencing of JAK3 gene
DNA
Severe combined immunodeficiency, autosomal recessive, (T-B+ NK +)
Panel: 1 Complete sequencing of gene CD3D
DNA
Complete sequencing of gene CD3e
DNA
Complete sequencing of gene IL7R
DNA
Complete sequencing of gene PTPRC (CD45)
DNA
4ºC
4ºC
4ºC
4ºC
Severe combined immunodeficiency, sensitive to ionizing radiation, (T-B-NK +)
Panel: 1 Complete sequencing of gene DCLRE1C
DNA
Severe combined immunodeficiency, X-linked (T-B + NK-)
Panel: 1 Complete sequencing of gene IL2RG
DNA
251
Human Genetics
Human Genetics
Human Genetics
Human Genetics
252
252
Immunodeficiency, common variable, type 2
OMIM Phenotype: 240500 OMIM Gene/Locus: 604907 Panel: 1 Complete sequencing of gene TNFRSF13B
DNA
HLA class 1 immunodeficiency (bare lymphocyte syndrome type I)
Panel: 1 Complete sequencing TAP1 gene
DNA
Complete sequencing of gene TAPBP
DNA
HLA class 2 immunodeficiency (bare lymphocyte syndrome type II), (complementation
group A)
Panel: 1 Complete sequencing of gene CIITA (MHC2TA)
DNA
MHC class II deficiency, (complementation group B)
Panel: 1 Complete sequencing of gene RFXANK
DNA
Bare lymphocyte syndrome type II, (complementation group C/ E)
Panel: 1 Complete sequencing of gene RFX5
DNA
Bare lymphocyte syndrome type II, (complementation group D)
Panel: 1 Complete sequencing of gene RFXAP
DNA
Bare lymphocyte syndrome type I, due to tap2 deficiency
Panel: 1 Complete sequencing of gene TAP2
DNA
X-linked agammaglobulinemia; bruton agammablobulinemia
OMIM Phenotype: 300755 OMIM Gene/Locus: 300300 Panel: 1 Complete sequencing of BTK gene
DNA
Panel: 2 Analysis deletions / duplications by MLPA BTK gene
DNA
Immunodeficiency X-linked, with hyper IGM
Panel: 1 Gene sequencing CD40LG
DNA
Molecular study HLA - B * 5701; association with abacavir hypersensitivity
Panel: 1 PCR genotyping of B * 5701 allele
DNA
Molecular study HLA - B * 5701; association with drug-induced liver injury due to flucloxacillin
Panel: 1 PCR genotyping of B * 5701 allele
DNA
Molecular study HLA - DQ2
Panel: 1 PCR genotyping Analysis DQ2
DNA
Molecular study HLA - DQ8
Panel: 1 PCR genotyping Analysis DQ8
DNA
Molecular study HLA - DQ2 and HLA-DQ8 associated celiac disease
Panel: 1 PCR genotyping Analysis set DQ2/DQ8
DNA
Molecular study HLA - class II DQ typing (low resolution)
Panel: 1 PCR genotyping of HLA DQ
DNA
Molecular study HLA - DQ typing
Panel: 1 PCR genotyping of HLA DQ
DNA
253
Human Genetics
Human Genetics
Human Genetics
Human Genetics
254
254
Molecular study HLA - DR4
OMIM Gene/Locus: 142857 OMIM Phenotype: Panel: 1 PCR genotyping of HLA DR4
DNA
Molecular study HLA - DRB1 associated narcolepsy
Panel: 1 Analysis DRB1 genotyping by PCR associated with narcolepsy
DNA
Molecular study HLA - DRB1 typing class II (low resolution)
Panel: 1 PCR genotyping of HLA DRB1
DNA
HLA-B27 molecular study
Panel: 1 PCR genotyping of HLA B27
DNA
Genetic diagnosis of nonneoplastic
digestive diseases
Crohn’s disease (susceptibility to), inflammatory bowel disease 1
Panel: 1 Complete sequencing of gene NOD2 (CARD15)
DNA
Panel: 2 Polymorphisms R702W, G908R NOD2 gene and 1007fs
DNA
Crohn disease-associated to growth failure, (susceptibility to)
Panel: 1 174 Polymorphism G / C in IL6 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Hirschsprung disease, susceptibility to, 1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene EDNRB
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Genetic diagnosis of nonneoplastic
digestive diseases
255
OMIM Phenotype: 613711 OMIM Gene/Locus: 600837 Panel: 1 Complete sequencing of GDNF gene
DNA
Panel: 1 Complete sequencing of gene EDN3
DNA
Genetic diagnosis of haematological
and cardiovascular diseases
Sideroblastic anemia X-linked
Panel: 1 Complete sequencing of gene ALAS2
DNA
Paroxysmal nocturnal hemoglobinuria
Panel: 1 Complete sequencing of gene PIGA
DNA
Hyperhomocysteinemia
Panel: 1 C677T mutation (Ala222Val) and A1298C (Glu429Ala) in MTHFR
DNA
Panel: 2 Complete sequencing of gene MTHFR
DNA
Long QT syndrome 1
Panel: 1 Complete sequencing of gene KCNQ1 (KVLQT1)
DNA
Long QT syndrome 2
Panel: 1 KCNH2 gene sequencing
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
256
256
Long QT syndrome 3
Panel: 1 OMIM Gene/Locus: 600163 Complete sequencing of SCN5A gene
DNA
Long QT syndrome 4
Panel: 1 Analysis of gene mutation of E1425G ANK2
TAT: Conservation:
Long QT syndrome 5
Panel: 1 KCNE1 gene sequencing
DNA
Long QT syndrome 6
Panel: 1 KCNE2 gene sequencing
DNA
Long QT syndrome-dominant inheritance (andersen-tawil syndrome)
DNA
Long QT syndrome-recessive inheritance (Jervell and Lange-Nielsen syndrome 1)
Panel: 1 Complete sequencing of gene KCNQ1 (KVLQT1)
DNA
Long QT syndrome-recessive inheritance (Jervell and Lange-Nielsen syndrome 2)
Panel: 1 Complete sequencing of gene KCNE1
DNA
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial
dysfunction and/or dilated cardiomyopathy
Panel: 1 Sequencing of exons 30 RYR2
DNA
257
Ventricular tachycardia, catecholaminergic polymorphic, 2
OMIM Phenotype: 611938 OMIM Gene/Locus: 114251 Panel: 1 Complete sequencing of gene CASQ2
DNA
Afibrinogenemia, dysfibrinogenemia, hypofibrinogenemia, congenital,
Panel: 1 Complete sequencing of gene FGA
DNA
Complete sequencing of gene FGB
DNA
Complete sequencing of gene FGG
DNA
Alpha thalassemia
Panel: 1 Complete sequencing of gene HBA
DNA
a3, 7, a4, 2, a20, 5, aSEA, and aMED aFIL
DNA
Late alpha thalassemia X-linked mental
Panel: 1 Sequencing of exons 7-9, 17-20 and 26-29 ATRX gene
DNA
Panel: 2 Sequencing of remaining exons ATRX
DNA
Panel: 3 Complete sequencing of gene ATRX
DNA
Sickle cell anemia
Panel: 1 Complete sequencing of HBB gene
DNA
Panel: 2 HBB gene mutation p.Glu6Val
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
258
258
Anemia de Diamond-Blackfan tipo 1
OMIM Phenotype: 105650 OMIM Gene/Locus: 603474 Panel: 1 Complete sequencing of gene RPS19
DNA
Panel: 2 Analysis deletions / duplications RPS19 gene
DNA
Diamond -Blackfan anemia, type 3
Panel: 1 Complete sequencing of gene RPS24
DNA
DNA
Panel: 1 Complete sequencing of gene RPL35A
DNA
Diamond -Blackfan anemia, type 6; AASE syndrome
Panel: 1 Complete sequencing of gene RPL5
DNA
Panel: 1 Complete sequencing of gene RPL11
DNA
DNA
259
Fanconi anemia (complementation group A)
Panel: 1 Complete sequencing of FANCA gene
DNA
Panel: 2 Analysis of large deletions by MLPA FANCA gene
DNA
Panel: 3 Screening FANCA gene
DNA
Fanconi anemia (complementation group A)
Panel: 1 Analysis IVS4 +4 A mutation in gene-T FANCC
DNA
Fanconi anemia (complementation group C)
Panel: 2 Complete sequencing of gene FANCC
DNA
Fanconi anemia (complementation group G)
Panel: 1 Complete sequencing of gene FANCG (XRCC9)
DNA
Fanconi anemia (complementation group N)
Panel: 1 Complete sequencing of gene PALB2 (FANCN)
DNA
Type 1 congenital dyserythropoietic anemia
Panel: 1 Complete sequencing of gene CDAN1
DNA
Megaloblastic anemia
Panel: 1 Complete sequencing of gene CUBN
DNA
Type I hereditary angioedema
Panel: 1 Complete sequencing of gene SERPING1 (C1NH)
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
260
260
Type III hereditary angioedema
Panel: 1 Complete sequencing of F12
DNA
Panel: 2 Analysis of F12 gene mutation Thr309Lys
DNA
Angiotensinogen, IGA nephropathy, progression to renal failure
Panel: 1 AGT gene mutation Met235Thr
DNA
Beta-thalassemia
Panel: 1 Complete sequencing of HBB gene
DNA
Panel: 2 HBB gene MLPA Analysis
DNA
Cerebral cavernous malformations 1
Panel: 1 Complete sequencing of gene KRIT1 (CCM1)
DNA
Panel: 2 Mutations 1363C> T, and Q698X gene dG699 KRIT1
DNA
Studio deletion / duplication by MLPA in CCM1, 2 and 3
DNA
Panel: 1 Complete sequencing of gene CCM2
DNA
Panel: 1 Complete sequencing of gene PDCD10 (CCM3)
DNA
261
Hereditary coproporphyria
Panel: 1 Complete sequencing of gene CPOX
DNA
antithrombin III deficiency
Panel: 1 Complete sequencing SERPINC1 (AT3)
DNA
plasminogen deficiency type 1
Panel: 1 Complete sequencing of gene PLG
DNA
coagulation factor XII deficiency
Panel: 1 Complete sequencing of gene F12
DNA
Panel: 2 F12 gene mutation C46T
DNA
arrhythmogenic right ventricular dysplasia, 1
Panel: 1 Complete sequencing of gene TGFB3
DNA
Panel: 1 Sequencing of exons 30 RYR2
DNA
Panel: 1 Sequencing of exons 30 TMEM43
DNA
Panel: 1 Complete sequencing of gene DSP
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
262
262
Panel: 1 Complete sequencing of PKP2 gene
DNA
Panel: 1 Complete sequencing of gene DSG2
DNA
Panel: 1 Complete sequencing of gene DSC2
DNA
Panel: 1 Complete sequencing of gene JUP
DNA
arrhythmogenic right ventricular dysplasia, types 8 and 9
Panel: 1 MLPA Analysis of large deletions in PKP2 and DSP
DNA
Von Willebrand disease, type 1
Panel: 1 Sequencing exons 18-21, 25-28 and 42-45 of VWF gene
DNA
Panel: 2 Sequencing of remaining exons of VWF
DNA
Panel: 3 Complete sequencing of VWF gene
DNA
Panel: 4 Sequencing of exons 3-19 of VWF
DNA
Panel: 5 Screening and T791M mutations VWF gene R861W
DNA
Panel: 6 Sequencing exons 18-20 of VWF gene
DNA
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
263
erythromelalgia, primary or family eritermalgia
DNA
spherocytosis, type 1
Panel: 1 Complete sequencing of gene ANK1
DNA
Panel: 1 Complete sequencing of gene SPTB
DNA
Panel: 1 Complete sequencing of gene SPTA1
DNA
Panel: 1 Complete sequencing of SLC4A1 gene (BND3)
DNA
Panel: 1 Complete sequencing of gene EPB42
DNA
nitric oxide synthase 3, coronary artery spasm 1, susceptibility
Panel: 1 T786C polymorphism gene NOS3
DNA
cyclic neutropenia
Panel: 1 Complete sequencing of gene ELA2 (Elane)
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
264
264
Hemophilia A
Panel: 1 Analysis of reversal of introns 1 and 22 F8 gene
DNA
Panel: 2 Complete sequencing of F8 gene
DNA
hemophilia B
DNA
glucocorticoid-remediable aldosteronism
Panel: 1 Chimeric gene Analysis CYP11B1/CYP11B2
DNA
TAT: 2-3 weeks
Conservation: 4ºC
pulmonary hypertension familial primary, 1
Panel: 1 Complete sequencing of BMPR2 gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 BMPR2 gene MLPA Analysis
DNA
TAT: 4 weeks
Conservation: 4ºC
hemophagocytic lymphohistiocytosis, familial, 2
Panel: 1 Complete sequencing of gene PRF1
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene UNC13D
DNA
Panel: 1 Complete sequencing of gene STX11
DNA
TAT: 2-3 weeks
Conservation: 4ºC
265
cardiomyopathy, dilated, 1A
DNA
Panel: 2 Complete sequencing of gene MYBPC3
DNA
cardiomyopathy, dilated, 1D
Panel: 1 Complete sequencing of gene TNNT2
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Cardiomyopathy, dilated, 1E
Panel: 1 Complete sequencing of SCN5A gene
DNA
cardiomyopathy, dilated, 1I
Panel: 1 Complete sequencing of gene DES
DNA
TAT: 6-8 weeks
Conservation: 4ºC
cardiomyopathy, dilated, 1J
Panel: 1 Complete sequencing of gene EYA4
DNA
cardiomyopathy, dilated, 1N
Panel: 1 Complete sequencing of gene TCAP
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Cardiomyopathy, dilated, 1R
Panel: 1 Complete sequencing of gene ACTC1
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
266
266
cardiomyopathy, dilated, 1Y
Complete sequencing of gene TPM1
DNA
TAT: 7 weeks
Conservation: 4ºC
cardiomyopathy, familial restrictive, 1
Panel: 1 Complete sequencing of gene TNNI3
DNA
TAT: 7 weeks
Conservation: 4ºC
cardiomyopathy, familial hypertrophic, 1
Panel: 1 Complete sequencing of MYH7
DNA
Panel: 1 Complete sequencing of gene TNNT2
DNA
TAT: 7 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene TPM1
DNA
TAT: 7 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene MYBPC3
DNA
Panel: 1 Analysis of mutation R302Q in PRKAG2
DNA
TAT: 4 weeks
Conservation: 4ºC
267
Panel: 1 Complete sequencing of gene TNNI3
DNA
Panel: 1 Complete sequencing of gene MYL3
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Sequencing of gene exons TTN 212-213
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene MYL2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene ACTC1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene CSRP3
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene TNNC1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene MYH6
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
268
268
cardioskeletal myopathy with neutropenia and abnormal mitochondria; barth syndrome
Panel: 1 Complete sequencing of gene TAZ (G4.5; Linked to X)
DNA
left ventricular noncompaction 1
Panel: 1 Complete sequencing of gene DTNA
DNA
cardiomyopathy, dilated 1C, with left ventricular noncompaction 3
Panel: 1 Complete sequencing of gene LDB3
DNA
TAT: 6-8 weeks
Conservation: 4ºC
cardiomyopathy, dilated 1S, with left ventricular noncompaction 5
Panel: 1 Complete sequencing of MYH7
DNA
cardiac myxoma
Panel: 1 Complete sequencing of gene PRKAR1A
DNA
TAT: 4-6 weeks
Conservation: 4ºC
neutropenia, severe congenital, 1, autosomal dominant
Panel: 1 Complete sequencing of gene ELA2 (Elane)
DNA
TAT: 7 weeks
Conservation: 4ºC
neutropenia, severe congenital, 3, autosomal recessive; kostmann syndrome
Panel: 1 Complete sequencing of gene HAX1
DNA
TAT: 6 weeks
Conservation: 4ºC
neutrophilia, hereditary
Panel: 1 CSF3R gene sequencing
DNA
TAT: 7-9 weeks
Conservation: 4ºC
269
polycythemia vera
Panel: 1 Analysis of exon 12-14 (Mut V617F; K539L; V607N) JAK2 gene
DNA
Panel: 2 Analysis of JAK2 V617F mutation gene
DNA
Analysis of Bcl-X
DNA
porphyria, acute intermittent
Panel: 1 Complete sequencing of gene HMBS
DNA
porphyria, acute hepatic
Panel: 1 Complete sequencing of gene ALAD
DNA
porphyria cutanea tarda
Panel: 1 Complete sequencing of gene UROD
DNA
porphyria variegata
Panel: 1 Complete sequencing of gene PPOX
DNA
protoporphyria erythropoietic
Panel: 1 Complete sequencing of gene DATE
DNA
protoporphyria, erythropoietic, X-linked
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
270
270
chimerism (STRs and VNTRs)
OMIM Phenotype: OMIM Gene/Locus: Panel: 1 Screening for STRs and VNTRs
DNA
glycoprotein GPIBn alfa, recurrent coronary events (in diabetics)
Panel: 1 GPIb gene polymorphism T145M
DNA
Bernard-Soulier syndrome
Panel: 1 Analysis of mutation in gene GPIb W343X
TAT: Conservation:
tetralogy of Fallot
Panel: 1 Complete sequencing of gene JAG1
DNA
Panel: 2 MLPA analysis of large gene deletions JAG1
DNA
Panel: 3 Screening exons 1-6, 9, 12, 17, 20, 23 and 24 gene JAG1
DNA
thrombocythemia type 3
Panel: 1 Analysis of exon 12-14 (Mut V617F; K539L; V607N) JAK2 gene
DNA
congenital amegakaryocytic thrombocytopenia
Panel: 1 Complete sequencing of gene MPL
DNA
thrombotic thrombocytopenic purpura, congenital
Panel: 1 Complete sequencing of ADAMTS13 gene
DNA
271
recurrent venous thromboembolism and sever atherosclerosis, E-selectin
Panel: 1 Analysis of Ser128Arg polymorphism in ELAM-1 gene
DNA
platelet membrane glycoprotein - GPIIIA
Panel: 1 Analysis on polymorphism Leu33Pro GPIIIa gene (ITGB3)
DNA
hereditary thrombophilia
Panel: 1 Mutation G1691A (Arg506Gln) gene Factor V Leiden
DNA
TAT: 1 week
Conservation:
Analysis of G20210A mutation in Prothrombin (Factor II)gene
DNA
TAT: 2 weeks
Conservation:
C677T mutation (Ala222Val) and A1298C (Glu429Ala) in MTHFR
DNA
TAT: 1 week
Conservation:
Polymorphism 1bp Del / Ins, gene PAI1 4G/5G
DNA
TAT: 2 weeks
Conservation:
I / D polymorphism in ACE gene
DNA
TAT: 2 weeks
Conservation:
Thrombophilia Panel: Mutations in Factor V and Factor II
DNA
TAT: 2-3 weeks
Conservation:
Panel of Thrombophilia: Factor V, Factor II and MTHFR
DNA
TAT: 2-3 weeks
Conservation:
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
arterial and venous thrombosis, intracerebral hemorrhage
Panel: 1 Val34Leu factor XIII gene
DNA
TAT: 10 days
Conservation: 4ºC
arterial tortuosity
Panel: 1 Analysis of mutation R132W in SLC2A10 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
272
272
thrombocytosis 1
Panel: 1 TPO gene polymorphism
DNA
thrombocytopenia, neonatal alloimmune; posttransfusion purpura
Panel: 1 Analysis of mutation R143Q in ITGB3
DNA
Bernard-Soulier syndrome
Panel: 1 Complete sequencing of gene GP9
DNA
Complete sequencing of gene GP1BA
DNA
Complete sequencing of gene GP1BB
DNA
Brugada syndrome 1
Panel: 1 Complete sequencing of SCN5A gene
DNA
Milroy syndrome
Panel: 1 Sequencing of gene exons 18-25 Flt4 (VEGFR3)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Sequencing of remaining exons of gene FLT4 (VEGFR3)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 3 MLPA Analysis of FLT4 gene deletions (VEGFR3)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Parkes Weber syndrome; arteriovenous fistulas
Panel: 1 Gene sequencing RASA1
DNA
Genetic diagnosis of haematological and cardiovascular
diseases
Volume, sample: 5-10 ml, 2 ml Blood-EDTA, Bone Marrow EDTA
Williams-Beuren syndrome; supravalvular aortic stenosis
OMIM Gene/Locus: 130160;
Panel: 1 Analysis deletions of ELN and LIMK1 genes by MLPA
DNA
Complete sequencing of ELN gene
DNA
TAT: 12 weeks Panel: 3 OMIM Gene/Locus: 130161
Analysis deletions / duplications ELN gene: 4 probes
DNA
TAT: 2 weeks 601329
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Wiskott-Aldrich
Panel: 1 Complete sequencing of WAS gene
DNA
Wolff Parkinson White syndrome
Panel: 1 Analysis of mutation R302Q in PRKAG2
DNA
leukemia; various types
Panel: 1 Analysis gives internal tandem duplication of FLT3
DNA
TAT: 2 weeks
Conservation: 4ºC
Analysis gives FLT3 Asp835 mutation
DNA
t(11; 19)(q23, p13.3) ENL / MLL (ppal.LANL Child)
DNA
hypereosinophilic syndrome
Panel: 1 Gene Analysis FIP1L1-PDGFRA fusion
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Quantification of FIP1L1-PDGFRA
DNA
TAT: 1 week
Conservation: 4ºC
273
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Human Genetics
Human Genetics
Genetic diagnosis of haematological and cardiovascular
diseases
Human Genetics
274
274
mastocytosis
Panel: 1 Gene mutation D816V c-KIT
DNA
Genetic diagnosis of leukemia, lymphoma and
related diseases
acute myeloid leukemia
Panel: 1 Complete sequencing of K-RAS oncogene
DNA
Complete sequencing of NPM1 gene
DNA
TAT: 8-10 weeks Panel: 3 Sequencing of gene exon 12 NPM1
DNA
Complete sequencing of N-RAS gene
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
juvenile myelomonocytic leukemia, included chronic myelomonocytic leukemia
Panel: 1 Complete sequencing of gene PTPN11
DNA
TAT: 4-6 weeks
Conservation:
Complete sequencing of K-RAS oncogene
DNA
Complete sequencing of N-RAS gene
DNA
Complete sequencing of NF1 gene
DNA
Analysis of exon 12 (including mut. V617F) JAK2 gene
DNA
4ºC
4ºC
4ºC
4ºC
4ºC
neutrophilic leukemia
Panel: 1 Analysis of exon 12 (including mut. V617F) JAK2 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
related diseases
myelofibrosis with myeloid metaplasia
Panel: 1 Analysis of exon 12.14 (including mut. V617F, K539L and V607N) JAK2 gene
DNA
Mutation analysis of gene w515l MPL
DNA
chronic myeloid leukemia
Panel: 1 t(9; 22)(q34, q11) - BCR-ABL
DNA
TAT: 2 weeks
BCR-ABL quantification
DNA
TAT: 1 week Panel: 3 OMIM Gene/Locus: 151412
Survey of mutations of resistance to Gleevec
DNA
t(9; 22)(q34, q11), - BCR-ABL
TAT: Panel: 5 OMIM Gene/Locus: 151414
BCR-ABL quantification
DNA
TAT: 2 weeks Panel: 6 +8, +19, + Ph, i (17q) DNA
TAT: 2 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation:
Conservation: 4ºC
Conservation: 4ºC
chronic myeloid leukemia
Panel: 1 Analysis of mutation in gene GATA2 l359v
TAT: Conservation:
Panel: 1 t(8; 21)(q22, q22) - AML1-ETO
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Quantification of AML1-ETO
DNA
TAT: 1 week
Conservation: 4ºC
t(6; 9)(p23; q34) - DEK-CAN
DNA
275
Human Genetics
Human Genetics
Human Genetics
related diseases
Human Genetics
276
276
t(3; 3)(q21, q26) - EVI1
DNA
TAT: 2 weeks Panel: 5 inv (3)(q21q26)
DNA
TAT: 2 weeks Panel: 6 +8, -7, -5, Del (5q), del (20q), 12p E19
DNA
Conservation: 4ºC
Conservation: 4ºC
acute promyelocytic leukemia, M3
Panel: 1 t(15; 17)(q22, q11-12) - PML-RARA
DNA
TAT: 1 week
Conservation: 4ºC
Panel: 2 Quantification of PML-RARA
DNA
TAT: 1 week
Conservation: 4ºC
acute promyelocytic leukemia, variant
Panel: 1 t(11; 17)(q23, q21) - PLZF-RARA
DNA
TAT: 1 week
Conservation: 4ºC
Panel: 2 Quantification of PLZF-RARA
DNA
TAT: 1 week
Conservation: 4ºC
acute myeloid leukemia, M4/M4Eo subtype
Panel: 1 inv (16)(p13q22) or t(16; 16) - CBFB-MYH11
DNA
TAT: 1 week
Conservation: 4ºC
Panel: 2 Quantification of CBFB-MYH11
DNA
TAT: 1 week
Conservation: 4ºC
mixed lineage leukemia; M5
Panel: 1 t(9; 11) p22, q23) - MLL-AF9
DNA
TAT: 2 weeks
Conservation: 4ºC
Detection of MLL/AF9 rearrangement
DNA
t(6; 9) (p23, q34) - DEK-CAN
DNA
related diseases
mixed lineage leukemia; M5
Panel: 4 OMIM Gene/Locus: 159555; 125264; 165215;
t(3; 3)(q21, q26) - EVI1
DNA
TAT: 2 weeks Panel: 5 or inv (3)(q21q26)
DNA
TAT: 2 weeks Panel: 6 +8, -7, -5, Del (5q), del (20q), 12p E19
DNA
Conservation: 4ºC
Conservation: 4ºC
myelodysplasia and leukemia syndrome with monosomy 7
Panel: 1 -7, Del (7q), -5, del (5q) F20
DNA
TAT: 2 weeks
Conservation: 4ºC
chronic myeloproliferative disorder, with eosinophilia
Panel: 1 t(5; 12)(q33, p13) - PDGFRB-TEL (ETV6)
DNA
TAT: 2 weeks
Conservation: 4ºC
myelodysplastic syndrome
Panel: 1 Analysis lys700glu mutations (K700E) and his662-to-gln (H662Q) gene SF3B1
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene SF3B1
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3 +8, Del (11q), del (20q), E21
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 4 del (11q) of (12p)
DNA
TAT: 2 weeks
Conservation: 4ºC
autoimmune lymphoproliferative syndrome, type 1A
Panel: 1 Complete sequencing of FAS gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Complete sequencing of gene FASL
DNA
TAT: 2 weeks
Conservation: 4ºC
autoimmune lymphoproliferative syndrome, type IIa
Panel: 1 Complete sequencing of gene CASP10
DNA
TAT: 2 weeks
Conservation: 4ºC
277
Human Genetics
Human Genetics
Human Genetics
related diseases
Human Genetics
278
278
lymphoproliferative syndrome X-linked, type 1, Duncan disease
Panel: 1 Complete sequencing of gene SH2D1A
DNA
Panel: 2 MLPA analysis of large gene deletions SH2D1A
DNA
lymphoproliferative syndrome X-linked, type 2
Panel: 1 Complete sequencing of gene XIAP (XLP2)
DNA
TAT: 2 weeks
Conservation: 4ºC
pre-B-cell leukemia
Panel: 1 t(1; 19)(q23; p13.3) - E2A-PBX1
DNA
TAT: 1 week
Panel: 2 Quantification of E2A-PBX1
DNA
TAT: 1 week
t(5; 14)(q31, q32) - IL3-IGH
DNA
TAT: 2 weeks
t(12; 21)(p13; q22) - TEL-AML1
DNA
TAT: 1 week
Panel: 5 Quantification of TEL-AML1
DNA
TAT: 1 week
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
oncogene B-cell leukemia 2
Panel: 1 t(8; 14)(q24, q32) - MYC-IGH
DNA
TAT: 1 week
Conservation: 4ºC
Panel: 2 t(2, 8)(p12; q24) - IGK-MYC
DNA
TAT: 2 weeks
Conservation: 4ºC
acute lymphoblastic leukemia
Panel: 1 t(9; 22)(q34, q11) - BCR-ABL
DNA
TAT: 2 weeks
Conservation: 4ºC
t(4; 11)(q21, q23) - AF4-MLL
DNA
TAT: 1 week
Conservation: 4ºC
related diseases
acute lymphoblastic leukemia
AF4-MLL Quantifying
DNA
TAT: 2 weeks T-cell acute lymphocytic leukemia 1
Panel: 1 t(1; 14)(p32; q11) - TAL1/SCL-TCRA
DNA
TAT: 2 weeks
t(1; 7)(p34; q34) - LCK-TCRB
DNA
TAT: 2 weeks Panel: 3 OMIM Gene/Locus: 190080; 186880
t(8; 14)(q24, q11) - MYC-TCRA
DNA
t(7, 9)(q35; q34) - TCRB-TAL2
DNA
t(7; 9)(q34; q34.3) - TCRB-tan1
DNA
t(7; 10)(q35, q24) - TCRB-HOG11
DNA
t(10; 14)(q24, q11) - HOG11-TCRA
DNA
t(11; 14)(p13; q11) - RBTN2/TTG2-TCRA/D
DNA
t(7; 11)(q35, p13) - TCRB-RBTN2/TTG2
DNA
t(11; 14)(p15; q11) - RBTN1/TTG1-TCRA/D
DNA
TAT: 2 weeks Panel: 11 del (9p), t(9p)
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
279
Human Genetics
Human Genetics
Human Genetics
related diseases
Human Genetics
280
280
chronic lymphocytic leukemia
Panel: 1 t(14; 18)(q32, q21) - BCL2-IGH
DNA
t(11; 14)(q13, q32) - BCL1-IGH (CCND1/JH)
DNA
t(14; 19)(q32, q13) - BCl3-IGH
DNA
t(2; 14)(p13; q32) - BCL11A-IGH
DNA
TAT: 2 weeks Panel: 5 +12, Del (13q)
DNA
TAT: 2 weeks Panel: 6 del(11)(q21q23)
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
chronic lymphocytic leukemia
Panel: 1 Analysis of MCL-1 insertion
DNA
TAT: 2 weeks
Conservation:
Analysis of somatic hypermutation of immunoglobulin
DNA
Quantification of expression of Bcl1 (CCND1)
DNA
Quantification of expression of Bcl2
DNA
t(8; 14)(q24, q11) - MYC-TCRA
DNA
t(14; 14)(q11q32) - TCRA-TCL1
DNA
Panel: 7 inv (14)(q11q32) - TCRA-TCL1
DNA
TAT: 2 weeks
Conservation:
del1p32 and SIL-TAL1 fusion
DNA
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
related diseases
lymphoma, non-Hodgkin
Panel: 1 Complete sequencing of BRAF oncogene
DNA
Analysis B clonality (IgH rearrangements)
DNA
Burkitt lymphoma
Panel: 1 t(8; 14)(q24, q32) - MYC-IGH
DNA
TAT: 1 week
Conservation: 4ºC
Panel: 2 t(2, 8)(p11; q24) - IGK-MYC
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3 t(8; 22)(q24, q11) - MYC-IGL
DNA
TAT: 2 weeks
Conservation: 4ºC
follicular lymphoma
Panel: 1 t(14; 18)(q32, q21) - IGH-BCL2
DNA
TAT: 2 weeks
Panel: 2 t(2; 18)(p12; q21) - IGK-BCL2
DNA
TAT: 2 weeks
t(18; 22)(q21, q11) - BCL2-IGL
DNA
TAT: 2 weeks Panel: 4 t(1; 22)(q22, q11) - FcgRIIb-IGL
DNA
TAT: 2 weeks
Quantification of expression of Bcl2
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
large cell lymphoma
Panel: 1 t(3; 22)(q27, q32) - BCL6-IGL
DNA
TAT: 2 weeks
Conservation: 4ºC
t(3; 14)(q27, q32) - BCL6-IGH
DNA
281
Human Genetics
Human Genetics
Human Genetics
related diseases
Human Genetics
282
282
large cell lymphoma
t(2, 3)(p12; q27) - BCL6-IGK
DNA
Panel: 4 BCL6 gene sequencing and adjacent 3 ‘(CIITA, EIF4II, PIM1, Ikaros consensus TFRR and IgH)
DNA
t(14; 15)(q32, q11-q13) - BCL8-IGH
DNA
t(10; 14)(q24, q32) - NFKB2 (LYT10)-IGH
DNA
t(14; 18)(q32, q21) - IGH-BCL2
DNA
t(8; 14)(q24, q32) - MYC-IGH
DNA
t(6; 14)(p21; q32) - CyclinD3-IGH
DNA
t(1, 14)(q21, q32) - MUC1-IGH
DNA
Quantification of Bcl2 expression
DNA
mantle cell lymphoma
Panel: 1 t(11; 14)(q13, q32) - BCL1 (CCND1-CyclinD1)-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Quantification of expression of Bcl1 (CCND1)
DNA
TAT: 2 weeks
Conservation: 4ºC
lymphoplasmacytoid limphoma
Panel: 1 t(9; 14)(p13; q32) - PAG5-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
related diseases
mucosa-associated lymphoid tissue lymphoma
Panel: 1 t(11; 18)(q21, q21) - API2-MALT1 (MLT)
DNA
gastric lymphoma, primary, malt
Panel: 1 t(11; 18)(q21, q21) - API2-MALT1 (MLT)
DNA
TAT: 2 weeks
Conservation: 4ºC
t(1, 14)(p22; q32) - BCL10-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
B cell spenic lymphoma with villous lymphocytes
Panel: 1 t(7; 14)(q21, q32) - CDK6-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
t(2; 7)(p12; q21) - IGK-CDK6
DNA
TAT: 2 weeks
Conservation: 4ºC
various types of lymphoma
Panel: 1 t(11; 14)(q23, q32) - PAFAH2-IGH
DNA
TAT: 2 weeks
t(11; 14)(q23, q32) - RCK-IGH
DNA
TAT: 2 weeks
t(12; 14)(q24, q32) - BCL7A-IGH
DNA
TAT: 2 weeks
t(12; 22)(q24, q32) - CyclinD2-IGL
DNA
TAT: 2 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
IGH rearrangements; B clonality
Panel: 1 Analysis of IgH rearrangements, B Clonality
DNA
TAT: 1 week
Conservation: 4ºC
283
Human Genetics
Human Genetics
Human Genetics
related diseases
Human Genetics
284
284
TCR rearrangements; T clonality
Panel: 1 Analysis of TCR rearrangements, T Clonality
DNA
anaplastic K1 + (TOB)
Panel: 1 t(2; 5)(p23; q35) - ALK-NPM
DNA
TAT: 1 week
Conservation: 4ºC
angioimmunoblastic lymphadenophaty
Panel: 1 t(10q24) - NFKB2 (LYT10)
DNA
TAT: 2 weeks
t(7; 14)(q35, q11) - TRCB-TRCA / A
DNA
TAT: 2 weeks
t(7; 14)(p15; q11) - TCRG-TCRA / D
DNA
TAT: 2 weeks
Panel: 4 t(7; 7)(p15, q11) - TCRG
DNA
TAT: 2 weeks
t(11; 14)(p13; q11) - RBTN2-TRCD
DNA
TAT: 2 weeks
inv (14))(q11q32) - TCRA-TCL1
DNA
TAT: 2 weeks
Panel: 7 t(14; 14)((q11, q32) - TCRA-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
multiple myeloma
Panel: 1 t(11; 14)(q13, q32) - BCL1 (CCND1-CyclinD1)-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
t(4; 14)(p16; q32) - FGFR/MMSET3-IGH
DNA
TAT: 2 weeks
Conservation: 4ºC
t(14; 16)(q32, q23) - IGH-CMAF
DNA
TAT: 2 weeks
Conservation: 4ºC
related diseases
multiple myeloma
t(6; 14)(p25; q32) - MUM1 (IRF4)-IGH
DNA
t(1, 14)(q21, q32) - MUM2/3-IGH
DNA
1q, 13q, del (6q) - TNF
DNA
del (7q) - GP170
DNA
Quantification of expression of Bcl1 (CCND1)
DNA
TAT: 2 weeks Genetic diagnosis of metabolic
and endocrine diseases
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
citrullinemia type 1
Panel: 1 Complete sequencing of gene ASS1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
citrullinemia type 2
DNA
alpha-methylacetoacetic aciduria, acetocetil coa thiolasa deficiency
Panel: 1 Complete sequencing of gene ACAT1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
HMG-CoA synthase deficiency
Panel: 1 Complete sequencing of gene HMGCS2
DNA
TAT: 6-8 weeks
Conservation: 4ºC
285
Human Genetics
Human Genetics
Human Genetics
Genetic diagnosis of metabolic
Human Genetics
286
286
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Panel: 1 P.Q342X mutation Analysis and gene p.E474Q Hadha
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene Hadha
DNA
guanidinoacetate methyltransferase deficiency
Panel: 1 Complete sequencing of gene GATM (AGAT)
DNA
creatine deficiency syndrome, X-linked
DNA
TAT: 6-8 weeks
Conservation: 4ºC
ornithine transcarbamylase deficiency, hyperammonemia
Panel: 1 Complete sequencing of OTC gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of deletions / duplications in OTC gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
galactosemia type 3, galactose epimerase deficiency
Panel: 1 Complete sequencing of gene GALE
DNA
TAT: 4-6 weeks
Conservation: 4ºC
glycogen storage disease type 0, liver
Panel: 1 Complete sequencing of gene GYS2
DNA
TAT: 7-9 weeks
Conservation: 4ºC
glycogen storage disease type 2B - Danon disease
Panel: 1 Complete sequencing of gene LAMP2
DNA
TAT: 6-8 weeks
Conservation: 4ºC
glycogen storage disease type 3
Panel: 1 Complete sequencing of gene AGL
DNA
287
glycogenosis type 4
Panel: 1 Complete sequencing of gene GBE1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
glycogenosis type 5, McArdle disease
Panel: 1 Complete sequencing of gene PYGM
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene PYGL
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene PFKM
DNA
glycogenosis type 9a
Panel: 1 Complete sequencing of gene PHKA2
DNA
hyperglycinemia, nonketotic, glicine encephalopathy
Panel: 1 Complete sequencing of gene AMT
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Complete sequencing of gene GCSH
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hyperoxaluria primary, type I
Panel: 1 Complete sequencing of gene AGXT
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
288
288
hyperlipemia essential familial
Panel: 1 Complete sequencing of LPL gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of large deletions in LPL gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hypocalciuric hypercalcemia, familial, type I
Panel: 1 Complete sequencing of CASR gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of deletions / duplications in CASR gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hypothyroidism, congenital, due to dyshormonogenesis, type 2A
Panel: 1 Complete sequencing of TPO gene
DNA
hypothyroidism, congenital, due to dyshormonogenesis, type 3
Panel: 1 Complete sequencing of gene TG
DNA
hypothyroidism, congenital, due to dyshormonogenesis, type 6
Panel: 1 Complete sequencing DUOX2 gene
DNA
hypothyroidism congenital, nongoitrous, type 1
Panel: 1 Complete sequencing of TSHR gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene TSHB
DNA
TAT: 3-4 weeks
Conservation: 4ºC
289
Panel: 1 Complete sequencing of gene NKX2-5
DNA
TAT: 3-4 weeks
Conservation: 4ºC
thyrotropin-releasing hormone resistance
Panel: 1 Complete sequencing of gene TRHR
DNA
TAT: 3-4 weeks
Conservation: 4ºC
farber lipogranulomatosis
Panel: 1 Complete sequencing of gene ASAH1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
aceruloplasminemia
Panel: 1 Complete sequencing of CP gene
DNA
isovaleric acidemia, isovaleryl-CoA dehydrogenase deficiency
Panel: 1 Complete sequencing of gene IVD
DNA
TAT: 4-6 weeks
Conservation: 4ºC
propionic acidemia
Panel: 1 Complete sequencing of gene PCCA
DNA
Complete sequencing of gene PCCB
DNA
Complete sequencing of gene PCCB
DNA
glutaric acidemia type 1
Panel: 1 Complete sequencing of gene GCDH
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
290
290
hereditary orotic aciduria
Panel: 1 Complete sequencing of gene UMPS
DNA
TAT: 4-6 weeks
Conservation: 4ºC
albinism, oculocutaneous, type II
Panel: 1 2.7 kb deletion of OCA2 gene
DNA
TAT: 10 days
Conservation: 4ºC
hereditary coproporphyria
Panel: 1 Complete sequencing of gene CPOX
DNA
TAT: 4 weeks
Conservation: 4ºC
GTP cyclohydrolase 1 deficiency; dystonia, dopa-responsive
DNA
TAT: 3-4 weeks
Conservation: 4ºC
pituitary hormone deficiency, combined, type 1
Panel: 1 Complete sequencing of POU1F1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
pituitary hormone deficiency, combined, type 2
Panel: 1 Complete sequencing of gene PROP1
DNA
TAT: Please inquire
Conservation: 4ºC
pituitary hormone deficiency, combined, type 3; with rigid cervical spine and deafness
Panel: 1 LHX3 gene sequencing
DNA
TAT: Please inquire
Conservation: 4ºC
pituitary hormone deficiency, combined, type 4, short estature
Panel: 1 Gene sequencing LHX4
DNA
TAT: Please inquire
Conservation: 4ºC
291
thrombophilia due to protein s deficiency
Panel: 1 Complete sequencing of gene PROS1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
glucose-6-phosphate dehydrogenase deficiency
Panel: 1 Complete sequencing of G6PD gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
acyl-coenzyme a dehydrogenase medium chain deficiency
Panel: 1 P.K304E mutation Analysis (c.985A> G) gene ACADM
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene ACADM
DNA
TAT: 7-9 weeks
Conservation: 4ºC
hypoaldosterinism congenital due to corticosterone methyloxidase deficiency
DNA
TAT: 4-6 weeks
Conservation: 4ºC
biotinidase deficiency
Panel: 1 Analysis of mutations G98: d7i3, Q456H, R538C, D444H, A171T and BTD gene
DNA
butyrylcholinesterase deficiency
Panel: 1 Complete sequencing of BCHE gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Panel: 1 Complete sequencing of gene HMGCL
DNA
TAT: 6-8 weeks
Conservation: 4ºC
factor VII deficiency; hypoproconvertinemia
DNA
Panel: 2 Arg353Gln / decanucleótido at position 323 of F7 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
292
292
pyruvate kinase deficiency of red cells
Panel: 1 Gene sequencing PKLR
DNA
TAT: Please inquire
Conservation: 4ºC
pyruvate dehydrogenase, deficiency
Panel: 1 Sequencing of exons 6 to 11 of PDHA1
DNA
TAT: 4 weeks
Conservation: 4ºC
3 beta hydroxysteroid dehydrogenase deficiency
Panel: 1 Complete sequencing of gene HSD3B2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 HSD3B2 Analysis gene MLPA
DNA
TAT: 3 weeks
Conservation: 4ºC
5 alpha reductase deficiency, pseudohermafrodistismo male
Panel: 1 Complete sequencing of gene SRD5A2
DNA
TAT: 2-3 weeks
Conservation: 4ºC
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
Panel: 1 Complete sequencing of CYP17A1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
alpha-1 antitrypsin deficiency
Panel: 1 E264V and E342K mutations in gene SERPINA1 (PI)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene SERPINA1 (PI)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
carnitine acylcarnitine translocase deficiency
DNA
TAT: 6-8 weeks
Conservation: 4ºC
293
carnitine palmitoyltransferase type ia deficiency, hepatic
Panel: 1 Complete sequencing of gene CPT1A
DNA
TAT: 8-10 weeks
Conservation: 4ºC
carnitine palmitoyltransferase type ii deficiency, infantile
Panel: 1 Complete sequencing of gene CPT2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 CPT2 gene mutation
DNA
TAT: 3 weeks
Conservation: 4ºC
fructose 1,6 bisphosphatase deficiency
Panel: 1 Complete sequencing of gene FBP1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
growth hormone deficiency type 1A (pituitary dwarfism)
Panel: 1 Complete sequencing of GH1 gene
DNA
TAT: 4 weeks
Conservation: 4ºC
growth hormone deficiency: types Ia; Ib; and combined type 1 to 5
OMIM Phenotype: 262400, 612781, 613038, 262600, 221750, 262700, 182230
OMIM Gene/Locus: 139250, 139191, 173110, 601538, 600577, 602146, 601802
Panel: 1 Analysis by MLPA deletions / duplications in regions GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3
DNA
TAT: 4 weeks
Conservation: 4ºC
MCAD (medium chain fatty acids) deficiency
Panel: 1 Analysis of mutation K304E (985A> G) in ACADM
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene ACADM
DNA
myoadenylate deaminase deficiency
Panel: 1 Complete sequencing of gene AMPD1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
294
294
carnitine primary deficience
DNA
TAT: 6-8 weeks
Conservation: 4ºC
congenital disorder of glycosylation, type Ia
Panel: 1 Complete sequencing of gene PMM2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
congenital disorder of glycosylation, type Ib
Panel: 1 Complete sequencing of gene MPI
DNA
TAT: 4-6 weeks
Conservation: 4ºC
congenital disorder of glycosylation, type Ic
Panel: 1 complete gene ecuenciación ALG6
DNA
TAT: 7-9 weeks
Conservation: 4ºC
diabetes mellitus, permanent neonatal
Panel: 1 Complete sequencing of ABCC8
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Complete sequencing of gene KCNJ11
DNA
TAT: 3-4 weeks
Conservation: 4ºC
diabetes mellitus insulin resistant with acanthosis nigricans
Panel: 1 Complete sequencing of INSR
DNA
diabetes mody type 1
Panel: 1 Complete sequencing of gene HNF4A
DNA
TAT: 4-6 weeks
Conservation: 4ºC
diabetes mody type 2, diabetes gestational, included
Panel: 1 Complete sequencing of GCK gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
295
mody diabetes type 3
Complete sequencing of HNF1A gene (TCF1)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene PDX1 (IPF1)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene HNF1B
DNA
Panel: 1 Complete sequencing of gene NeuroD1
DNA
TAT: 2-3 weeks
Conservation: 4ºC
diabetes mellitus, noninsulin-dependent
Panel: 1 Complete sequencing of gene HNF1B
DNA
types mody 1-6
OMIM Gene/Locus: 600281; 138079; 142410; 600733; 189907; 601724 Panel: 1 MLPA analysis of large deletions in genes HNF4A, GCK, HNF1A, PDX1, and NeuroD1 HNF1B
DNA
diarrhea 1, secretory chloride, congenital
DNA
fabry disease (alpha-galactosidase deficiency)
Panel: 1 Complete sequencing of GLA gene
DNA
TAT: 6 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of large deletions in GLA gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
296
296
Menkes disease
Panel: 1 Complete sequencing of gene ATP7A
DNA
TAT: 9 Weeks
Panel: 2 MLPA analysis of large deletions in gene ATP7A
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Conservation: 4ºC
chronic granulomatous disease X-linked
Panel: 1 Complete sequencing of CYBB gene
DNA
TAT: 4 weeks
Conservation: 4ºC
chronic granulomatous disease, autosomal recessive, cytochrome b-negative
Panel: 1 Complete sequencing of gene CYBA
DNA
TAT: 4 weeks
Conservation: 4ºC
chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type 1
Panel: 1 Complete sequencing of gene NCF1
DNA
TAT: 9 weeks
Conservation: 4ºC
chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type 2
Panel: 1 Complete sequencing of gene NCF2
DNA
TAT: 7-9 weeks
Conservation: 4ºC
pompe desease (see glycogenosis type 2)
Panel: 1 Screening mutations Arg854X, Asp645Glu and IVS1-13 T> G GAA gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of GAA gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
phenylketonuria
Panel: 1 Complete sequencing of PAH gene
DNA
Panel: 2
Sequencing exons 7, 8, 11 and 12 of PAH gene
DNA
297
galactosemia type 1 (deficiency of galactose uridyltransferase)
Panel: 1 Q188R mutation analysis and GALT gene K285N
DNA
TAT: Please inquire
Panel: 2 MLPA Screeening for large deletions in GALT gene
DNA
TAT: 3-4 weeks
Panel: 3 Complete sequencing of gene GALT
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
galactosemia duarte variant
Panel: 1 N314D mutations and gene S135L GALT
DNA
TAT: 4 weeks
Conservation: 4ºC
gaucher disease type 1, glucocerebrosidase deficiency
Panel: 1 Analysis of mutations 84GG, IVS2 +1, N370S, 1297T, L444P, GBA gene V394L
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Gaucher disease type II, III and IIIA
Panel: 1 Complete sequencing of GBA gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
glycogen storage disease type IA
Panel: 1 Arg83Cys mutation and gene Gln347X G6PC
DNA
TAT: 10 days
Conservation: 4ºC
Panel: 2 Complete sequencing of gene G6PC
DNA
TAT: Please inquire
Conservation: 4ºC
glycogenosis type IB
Panel: 1 Mutations c.1042-1043 CT and SLC37A4 gene Gly339Cys
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of SLC37A4 gene (G6PT1)
DNA
TAT: Please inquire
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
298
298
Panel: 1 Screening for mutations 17delAG, IVS32-12A-G and AGL gene 3964delT
DNA
TAT: 10 days
Conservation: 4ºC
Panel: 2 Complete sequencing of gene AGL
DNA
TAT: 12-16 weeks
Conservation: 4ºC
glycogenosis type 2 - pompe disease
Panel: 1 Screening mutations Arg854X, Asp645Glu and IVS1-13 T> G GAA gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of GAA gene
DNA
TAT: 2 weeks
Conservation: 4ºC
zinc metabolism deficiency
Panel: 1 Complete sequencing of SLC30A2
DNA
TAT: 3 weeks
Conservation: 4ºC
hereditary hemochromatosis
Panel: 1 Analysis of mutations C282Y, H63D and S65C (HFE)
DNA
TAT: 1 week
Conservation: 4ºC
Panel: 2 Complete sequencing of HFE gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
hereditary hemochromatosis, type IIA
Panel: 1 Complete sequencing of gene HJV
DNA
TAT: 4 weeks
Conservation: 4ºC
hereditary hemochromatosis, type III
Panel: 1 Analysis of TY250X mutation in FR2 gene
DNA
TAT: 10 days
Conservation: 4ºC
299
hereditary hemochromatosis, type IV
DNA
TAT: 3-4 weeks
Conservation: 4ºC
familial hypercholesterolemia
Panel: 1 Complete sequencing of LDLR gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of deletions / duplications of LDLR gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
hypercholesterolemia, autosomal dominant, type B
Panel: 1 APOB gene mutation, Arg3500Glndel
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Arg3500Gln mutations, Arg 3531Cys, Arg3480Trp APOB gene
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 3 Mutations Arg3500Gln, Arg3500Trp, His3543Tyr APOB gene
DNA
TAT: Conservation:
hypercholesterolemia, autosomal dominant, type 3
Panel: 1 Complete sequencing of PCSK9 gene (NARC1)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
primary hypercholesterolemia
DNA
TAT: 4-6 weeks
Conservation: 4ºC
congenital adrenal hyperplasia, beta-hidro xilasa 11 deficiency
DNA
TAT: 4 weeks
Conservation: 4ºC
congenital adrenal hyperplasia (21-hydroxylase deficiency)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
300
300
congenital adrenal hyperplasia (21-hydroxylase deficiency)
Panel: 2 Analysis of 8 most common mutations - CYP21A2
DNA
Panel: 3 MLPA analysis of large deletions, duplications and conversions of CYP21A2 gene. Sequencing mutations
DNA
early onset hypertension autosomal dominant
Panel: 1 Complete sequencing of gene NR3C2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
family hypobetalipoproteinemia
Panel: 1 Complete sequencing of gene APOB
DNA
hyperinsulinemic hypoglycemia, familial type 1
Panel: 1 Complete sequencing of ABCC8
DNA
hyperinsulinemic hypoglycemia, familial, type 2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of GCK gene
DNA
DNA
Panel: 1 Complete sequencing of GLUD1 (Glutamate dehydrogenase 1)
DNA
Panel: 2 Screening of exons 6, 7, 11 and 12 GLUD1
DNA
301
hypophosphatemic rickets, X-linked dominant
Panel: 1 Complete sequencing of PHEX gene
DNA
TAT: 7-9 weeks
Panel: 2 MLPA analysis of deletions and duplications in PHEX
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Conservation: 4ºC
hypogonadotropic hypogonadism with pseudohermaphroditism
Panel: 1 Complete sequencing of gene LHB
DNA
TAT: 2-3 weeks
Conservation: 4ºC
hypogonadotropic hypogonadism type 1 with or without anosmia; Kallmann syndrome 1
Panel: 1 Complete sequencing of gene KAL1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
hypogonadotropic hypogonadism type 2 with or without anosmia; Kallmann syndrome 2
Panel: 1 Complete sequencing KAL2 gene (FGFR1)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
hypogonadotropic hypogonadism type 3 with or without anosmia
Panel: 1 Complete sequencing of gene PROKR2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hypogonadotropic hypogonadism 4 with or without anosmia
Panel: 1 Complete sequencing of gene pROK2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of CHD7 gene
DNA
Panel: 1 Complete sequencing GnRHR gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
302
302
Panel: 1 Complete sequencing of genes KISS1R (GPR54) and Kiss1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
leydig cell hypoplasia with male pseudohermaphroditism
Panel: 1 Screening of exon 11 of gene LHCGR
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 2 Gene sequencing rest LHCGR
DNA
TAT: 7 weeks
Conservation: 4ºC
congenital adrenal hypoplasia
Panel: 1 Complete sequencing of DAX1 gene (NROB1)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
congenital adrenal hypoplasia
Panel: 1 DNA
OMIM Gene/Locus: TAT: Conservation:
homocystinuria due to cystathionine beta-synthase deficiency
Panel: 1 Gly307Ser mutation Analysis and Ile278Thr - CBS gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of CBS gene
DNA
homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
Panel: 1 Complete sequencing of gene MTHFR
DNA
TAT: 6-8 weeks
Conservation: 4ºC
fructose intolerance or fructosemia
Panel: 1 Mutations A149P, A174D; ALDOB gene N334K
DNA
TAT: 3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene ALDOB
DNA
TAT: 4-6 weeks
Conservation: 4ºC
303
lactose intolerance
Panel: 1 Analysis of polymorphism-13910C / T in LCT gene (MCM6)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of LCt(MCM6)
DNA
TAT: 8-10 weeks
Conservation: 4ºC
metachromatic leukodystrophy, arylsulfatase deficiency
Panel: 1 Complete sequencing of ARSA gene
DNA
TAT: 4 weeks
Conservation: 4ºC
hyperlipoproteinemia, type I, lipoprotein lipase deficiency
Panel: 1 G188E mutation LPL gene
DNA
TAT: 5 days
Conservation: 4ºC
Panel: 2 Sequencing exon-intron LPL gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3
Analysis of LPL gene promoter
DNA
TAT: 10 days
Conservation: 4ºC
3-methylcrotonyl-CoA carboxylase deficiency type 1, methylcrotonylglycinuria 1
Panel: 1 Complete sequencing of gene MCCC1
DNA
3-methylcrotonyl-CoA carboxylase deficiency type 2, methylcrotonylglycinuria 2
Panel: 1 Complete sequencing of gene MCCC2
DNA
mucopolysaccharidosis type 1, Hurler / Scheie syndrome
Panel: 1 Complete sequencing IDUA gene
DNA
mucopolysaccharidosis type 2, Hunter syndrome
Panel: 1 Complete sequencing of gene IDS
DNA
TAT: 5 weeks
Conservation: 4ºC
Panel: 2 Analysis of large deletions by MLPA IDS gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
304
304
mucopolysaccharidosis type 3A, Sanfilippo syndrome A
Panel: 1 Complete sequencing of gene SGSH
DNA
TAT: 3-4 weeks
Conservation: 4ºC
mucopolysaccharidosis type 3B, Sanfilippo syndrome B
Panel: 1 Complete sequencing of gene NAGLU
DNA
TAT: 9 weeks
Conservation: 4ºC
mucopolysaccharidosis type 3C, Sanfilippo syndrome C
Panel: 1 Complete sequencing of gene HGSNAT
DNA
TAT: 7-9 weeks
Conservation: 4ºC
mucopolysaccharidosis type 3D, Sanfilippo syndrome D
Panel: 1 Complete sequencing of gene GNS
DNA
TAT: 6-8 weeks
Conservation: 4ºC
mucopolysaccharidosis type 4A, morquio syndrome A
Panel: 1 Complete sequencing of gene GALNS
DNA
mucopolysaccharidosis type 4B, morquio syndrome B
Panel: 1 Complete sequencing of gene Glb1
DNA
mucopolysaccharidosis type 6, Maroteaux-Lamy syndrome
Panel: 1 Complete sequencing of gene ARSB
DNA
TAT: 4-6 weeks
Conservation: 4ºC
mucopolysaccharidosis type 7, Sly syndrome
Panel: 1 Complete sequencing of gene GUSB
DNA
TAT: 6-8 weeks
Conservation: 4ºC
305
mucopolysaccharidosis type 9
Panel: 1 Complete sequencing of gene HYAL1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
hyperinsulinemic hypoglycemia, familial, type 2, nesidioblastosis
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hereditary hyperferritinemia with congenital cataracts
Panel: 1 C.460_461 mutation Analysis in gene ins A FTL
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of FTL gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
obesity autosomal dominant
Panel: 1 Complete sequencing of MC4R gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
ornithine transcarbamylase deficiency; hyperammonemia
Panel: 1 Complete sequencing of OTC gene
DNA
TAT: 3 weeks
Conservation: 4ºC
hereditary chronic pancreatitis
Panel: 1 Complete sequencing of gene PRSS1
DNA
TAT: 3-4 weeks
Complete sequencing of gene SPINK1
DNA
TAT: 3-4 weeks
Complete sequencing of CTRC gene
DNA
TAT: 4-6 weeks
SPINK1 gene mutation N34S
DNA
TAT: 2 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
306
306
hereditary chronic pancreatitis
R122H mutation in cationic trypsinogen gene PRSS1
DNA
TAT: 2 weeks Panel: 6 Screening gene mutations PRSS1
DNA
Conservation: 4ºC
acute intermittent porphyria
Panel: 1 Complete sequencing of gene HMBS
DNA
porphyria cutanea tarda
Panel: 1 Complete sequencing of gene UROD
DNA
porphyria variegata
Panel: 1 Complete sequencing of gene PPOX
DNA
protoporphyria, erythropoietic
Panel: 1 Complete sequencing of gene DATE
DNA
protoporphyria erythropoietic, X linked
DNA
thyroid hormone resistance
Panel: 1 Complete sequencing of gene thrB
DNA
Panel: 2 Screening of exons 7 to 10 thrB gene
DNA
307
Bassen-Kornzweig syndrome / abetalipoproteinemia / acanthocytosis
Panel: 1 Complete sequencing of gene MTTP
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Berardinelli-Seip congenital lipodystrophy, type 1
Panel: 1 Gene sequencing AGPAT2
DNA
TAT: 5 weeks
Conservation: 4ºC
Crigler-Najjar syndrome, hyperbilirubinemia
Panel: 1 Complete sequencing of UGT1A1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
GLUT-1 deficiency syndrome
Panel: 1 Complete sequencing of SLC2A1
DNA
TAT: 6 weeks
Conservation: 4ºC
Panel: 2 Sequencing of exon 10 of SLC2A1
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3 MLPA analysis of large deletions in SLC2A1 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Donohue syndrome; leprechaunism
DNA
Farber syndrome; lipogranulomatosis
Panel: 1 Complete sequencing gene ASAH1
DNA
Gilbert syndrome
Panel: 1 Polymorphism Genotyping (TA) 7/8 - UGT1A1 gene promoter
DNA
Panel: 2 Complete sequencing of UGT1A1 gene
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
308
308
androgen insensitivity syndrome; testicular feminization syndrome
Panel: 1 Complete sequencing gene AR (androgen receptor)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Lesch-Nyhan syndrome
Panel: 1 Complete sequencing of gene HPRT1
DNA
TAT: 2 weeks
Conservation: 4ºC
autoimmune polyendocrine syndrome, type I
Panel: 1 Complete sequencing of AIRE gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 R257X mutation Analysis and AIRE gene 1094DEL13
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Rabson-Mendenhall syndrome, pineal hyperplasia, insulin-resistant diabetes mellitus, and
somatic abnormalities
DNA
Reifenstein syndrome
Panel: 1 Complete sequencing of AR gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Shwachman-Diamond syndrome
Panel: 1 Complete sequencing of gene SBDS
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hyper-IgE recurrent infection syndrome, autosomal dominant; job syndrome
Panel: 1 Complete sequencing of STAT3 gene
DNA
hyper IgD syndrome; mevalonic aciduria
Panel: 1 Complete sequencing of MVK gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
309
hyper-IgM immunodeficiency syndrome type 1, X-linked
Panel: 1 Complete sequencing of gene CD40LG (TNFSF5)
DNA
TAT: 4 weeks
Conservation: 4ºC
hyper-IgM immunodeficiency syndrome type 2, autosomal recessive
Panel: 1 Complete sequencing of gene AICDA
DNA
Panel: 1 Complete sequencing of CD40 gene
DNA
Panel: 1 Complete sequencing of gene UNG
DNA
TAT: 7-9 weeks
Conservation: 4ºC
triple-A syndrome; achalasia-addisonianism-alacrima syndrome; allgrove syndrome
Panel: 1 Complete sequencing of AAAS gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
tyrosinemia type I
Panel: 1 Sequencing exon with its flanking regions containing IVS6-1 G> T, IVS7-6 T> G and IVS12 +5 G> A FAH gene (fumarilacetoacetasa hydrolase)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of FAH gene (fumarilacetoacetasa hydrolase)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
tyrosinemia type II, oculocutaneous type; richner hanhart syndrome
Panel: 1 Complete sequencing of TAT gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
tyrosinemia type III
Panel: 1 Complete sequencing of gene HPD (4-hydroxyphenylpyruvate dioxygenase)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
310
310
trimethylaminuria; fish-odor syndrome
Panel: 1 Complete sequencing of gene FMO3
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 FMO3 gene mutation R51G
DNA
TAT: 2 weeks
Conservation: 4ºC
cerebrotendinous xanthomatosis
DNA
Genetic diagnosis of mitochondrial diseases
mitochondrial complex I deficiency (nuclear genes)
Panel: 1 Complete sequencing of gene NDUFV1
DNA
Complete sequencing of gene NDUFV2
DNA
Complete sequencing of gene NDUFS1
DNA
Complete sequencing of gene Ndufs2
DNA
DNA
DNA
DNA
DNA
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
mitochondrial complex I deficiency (nuclear genes)
Complete sequencing of gene NDUFA2
DNA
DNA
Complete sequencing of gene NDUFAF2 (B17.2L)
DNA
Complete sequencing of gene NDUFAF4 (HRPAP20)
DNA
Complete sequencing of gene C20ORF7
DNA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
mitochondrial complex 2 deficiency (nuclear genes)
Panel: 1 Complete sequencing of gene SDHA
DNA
Complete sequencing of gene SDHAF1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Leigh syndrome - cytochrome C oxidase deficiency (mitochondrial complex II-V deficiency,
included)
Panel: 1 Complete sequencing of gene SURF1
DNA
Complete sequencing of gene SCO2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing COX10 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Complete sequencing COX15 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
311
Human Genetics
Human Genetics
Human Genetics
Human Genetics
312
312
Leigh syndrome - cytochrome C oxidase deficiency (mitochondrial complex II-V deficiency, included)
Complete sequencing of gene DLD
Panel: 6 Panel: 7 Panel: 8 Panel: 9 Panel: 10 Panel: 11 Panel: 12 Panel: 13 Panel: 14 DNA
TAT: 7-9 weeks OMIM Gene/Locus: 300502
Complete sequencing PDHA1 gene
DNA
Complete sequencing of gene BCS1L
DNA
DNA
DNA
DNA
DNA
DNA
Complete sequencing of gene NDUFV1
DNA
Complete sequencing of gene SDHA
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
mitochondrial cardiomyopathy
Panel: 1 Analysis of mutations C3254G, A3260G, C3303T tRNA gene (Leu)(UUR)
DNA
citrullinemia, type II, adult-onset
Panel: 1 Screening of 4-bp mutations, 851GTAT, IVS11DS, GA, +1, 23-bp INS, NT1638,
ser225ter, IVS13DS, GA, +1, 1-BP INS, NT1800, arg588gln SLC25A13 gene
DNA
DNA
mitochondrial diabetes
Panel: 1 Gene Mutation A3243G tRNA (Leu)(UUR)
DNA
TAT: 10 days
Conservation: 4ºC
Leber hereditary optic neuropathy
OMIM Gene/Locus: 516000; 516003; 516006; Panel: 1 G11778A mutation Analysis, T14484C and G3460A in mtDNA
DNA
Mutations T4216C, G13708A and G15257A in mtDNA
DNA
TAT: 10 days
Conservation: 4ºC
Panel: 3 OMIM Gene/Locus: 516000; 516001; 516003; 516004; 516005
Complete sequencing of genes MT-7 ND
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Complete sequencing of 3 genes MT-CO
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Complete sequencing of genes and MT-MT-ATP8 ATP6
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing of gene MT-CYB
DNA
TAT: 3-4 weeks
Conservation: 4ºC
neuropathy, ataxia and retinitis pigmentosa, NARP syndrome
OMIM Gene/Locus: 516060 Panel: 1 Analysis of mutation T8993G in MTATP6 gene
DNA
Panel: 2 T8993G mutation Analysis and gene T8993C MTATP6
DNA
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
dominant type 1, 2
OMIM Gene/Locus: 174763 Panel: 1 Analysis of mutation Y955C in POLG gene of mtDNA
DNA
Panel: 2 Analysis of large deletions / duplications in mtDNA by MLPA
DNA
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314
chronic progressive external ophthalmoplegia
Panel: 1 Analysis of mutations A3243G, T3250C, G3316A in mtDNA tRNA
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of 22 mtDNA tRNA genes
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Kearns-Sayre syndrome
OMIM Gene/Locus: 530000 Panel: 1 Analysis of large deletions / duplications in MLPA mtDNAmediante
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 4977 bp deletion in mtDNA
DNA
TAT: 12 weeks
Conservation: 4ºC
Madelung syndrome
OMIM Gene/Locus: 590060 Panel: 1 Analysis of mutation A8344G in mtDNA
DNA
TAT: 10 days
Conservation: 4ºC
Melas syndrome
OMIM Gene/Locus: 590050 Panel: 1 Mutations A3243, A3253, C3256, T3271 and T3291 in gene MTTL1
DNA
TAT: 10 days
Conservation: 4ºC
Panel: 2 Analysis of mutations A3243G, C3256T, A3252G, C3093G, G3244A, T3258C, T3291C T3271C and gene MTTL1
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Analysis of mutations 12770A> G, 13045A> C, c.13084A> G, 13513G> AY 13514A> G in mitochondrial gene MTND5
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Complete sequencing of mitochondrial gene MTND5
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Merrf syndrome; myoclonic epilepsy associated with ragged-red fibers
OMIM Gene/Locus: 590060 Panel: 1 Analysis of mutations A8344G, T8356C, G8363A, A8296G and G8361A in gene MTTK
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Analysis of mutations A8344G and T8356C in MTTK gene
DNA
TAT: 10 days
Conservation: 4ºC
Leigh syndrome maternally inherited
Panel: 1 Analysis of T8993G and T8993C in MTATP gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Analysis of mutation T8993G in mtDNA
DNA
TAT: 10 days
Conservation: 4ºC
Maternal hereditary deafness
Panel: 1 Mutations A827G, T961C, T961delT + C (n) ins, T961insC, T961G, T1005C, A1116G, T1291C, T1243C, T1291C, C1494T and A1555G in gene MT-RNR1
DNA
Mutations T7445C, A7443G, T7472insC and T7511C in MT-CO1 gene
DNA
Analysis of mutation A3243G in gene MT-TL1
DNA
Genetic diagnosis of multisystemic diseases
lipodystrophy, congenital generalized, type 1; Berardinelli-Seip syndrome 1
Panel: 1 Complete sequencing of gene AGPAT2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
lipodystrophy, congenital generalized, type 2; Berardinelli-Seip syndrome 2
Panel: 1 Complete sequencing of gene BSCL2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
lipodystrophy, familial partial, type 3
Panel: 1 Complete sequencing of gene PPARG
DNA
TAT: 4-6 weeks
Conservation: 4ºC
lipodystrophy, familial partial, type 2; Dunnigan type
DNA
alstrom syndrome
Panel: 1 Complete sequencing of gene ALMS1
DNA
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316
amyloidosis, hereditary, transthyretin-related
Panel: 1 Complete sequencing of TTR gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Val30 mutation TTR gene Met
DNA
TAT: 3-4 weeks
Conservation: 4ºC
amyloidosis renal
Panel: 1 Complete sequencing of gene LYZ
DNA
amyloidosis hereditary renal
Panel: 1 Complete sequencing of gene FGA
DNA
TAT: 4-6 weeks
Conservation: 4ºC
amyloidosis type 3, and more types
Panel: 1 Complete sequencing of APOA1 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
CCFDN syndrome; congenital cataracts, facial dysmorphism and neuropathy
Panel: 1 Mutation IVS6 +389 C> T in gene CTDP1
DNA
TAT: 2 weeks
Conservation: 4ºC
gaucher disease, types I, II, III
Panel: 1 Analysis of mutations in gene Frequently GBA
DNA
TAT: Please inquire
Conservation: 4ºC
Panel: 2 Complete sequencing of GBA gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 3 Analysis of mutations 84GG, IVS2 +1, N370S, 1297T, L444P, GBA gene V394L
DNA
TAT: 3-4 weeks
Conservation: 4ºC
gaucher disease type IIIC
Panel: 1 Analysis of mutation Asp409his (D409H) in gene GBA
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Wilson’s disease
Panel: 1 Complete sequencing of gene ATP7B
DNA
TAT: 7 weeks
Panel: 2 Sequencing exons 2, 14 and 18 of gene ATP7B
DNA
TAT: 2 weeks
Panel: 3 One ATP7B Mutation
DNA
TAT: 10 days
Panel: 4 MLPA analysis of gene deletions ATP7B
DNA
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
tuberous sclerosis
Panel: 1 Complete sequencing of TSC1 and TSC2
DNA
Panel: 2 MLPA analysis of TSC1 and TSC2 deletions
DNA
Panel: 3 Complete sequencing and analysis of deletions MLPA TSC1 and TSC2
DNA
tuberous sclerosis type I
Panel: 1 Complete sequencing of TSC1 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 Analysis of deletions by MLPA of TSC1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 3 MLPA and sequencing of TSC1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
tuberous sclerosis type II
Panel: 1 Complete sequencing of TSC2 gene
DNA
TAT: 9 weeks
Conservation: 4ºC
Panel: 2 Analysis of deletions by MLPA of TSC2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 3 Sequencing and analysis by MLPA of TSC 2
DNA
TAT: 6-8 weeks
Conservation: 4ºC
317
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318
cystic fibrosis
Panel: 1 Complete sequencing of CFTR gene
DNA
TAT: 9 weeks
Conservation:
DNA
TAT: 2-3 weeks
Conservation:
Panel: 3 Analysis of 32 CFTR gene mutations Poli + T
DNA
TAT: 10 days
Conservation:
Panel: 4 Analysis of 32 CFTR gene mutations in donor
DNA
Panel: 5 DF508 CFTR gene mutation
DNA
Panel: 6 Screening for mutations in ACD difficult asthma control
DNA
Panel: 7 Saudi panel with 10 prevalent mutations
DNA
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
4ºC
familial partial lipodystrophy type 2
DNA
primary spontaneous pneumothorax
Panel: 1 Complete sequencing of FLCN gene
DNA
Aarskog-Scott syndrome
Panel: 1 Gene sequencing FGD1
DNA
Panel: 2 MLPA analysis of large gene deletions FGD1
DNA
Analysis mutation IVS5-1 G> A BTNL2 gene
DNA
Bardet-Biedl syndrome
Panel: 1 BBS1 gene sequencing
DNA
cardiofaciocutaneous syndrome
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Complete sequencing of K-RAS oncogene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Alagille syndrome
Panel: 1 Complete sequencing ofgene JAG1
DNA
Panel: 2 MLPA analysis of large gene deletions JAG1
DNA
Panel: 3 Screening exons 1-6, 9, 12, 17, 20, 23 and 24 gene JAG1
DNA
TAT: Conservation:
Beckwith-Wiedemann syndrome
Panel: 1 Analysis KCNQ1OT1 methylation (DMR2) and H19 (DMR1)
DNA
Panel: 2 Analysis 11p15.5 paternal uniparental disomy
DNA
Complete sequencing of gene CDKN1C
DNA
Abnormalities in gene methylation KCNQ1OT1: 19DMR, KvDMR, CDKN1C and IGF2 Uniparental disomy
DNA
Bor syndrome type 1 (branchio-oto-renal)
Panel: 1 Complete sequencing of gene EYA1
DNA
Bor syndrome type 2 (branchio-oto-renal)
DNA
319
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320
blepharophimosis, ptosis, and epicanthus inversus; BPES syndrome
Panel: 1 Complete sequencing of FOXL2 gene
DNA
Panel: 2 MLPA analysis of large gene deletions FOXL2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Carney syndrome type 1
DNA
Cornelia de lange syndrome type 1
Panel: 1 Complete sequencing of gene NIPBL
DNA
Panel: 2 MLPA analysis of large gene deletions NIPBL
DNA
Cornelia de lange syndrome type 2
Panel: 1 Analysis of gene locus SMC1A DXS423E
TAT: Conservation:
Panel: 2 Complete sequencing SMC1A gene (X-linked)
DNA
Costello syndrome
Panel: 1 HRAS gene sequencing
DNA
Denys-Drash
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Ehlers-Danlos classic types 1 and 2
DNA
TAT: 12-16 weeks
Conservation: 4ºC
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Ehlers-Danlos syndrome autosomal dominant; hypermobility type and autosomal recessive
due to tenascin X deficiency
Panel: 1 Complete sequencing of gene TNXB
DNA
Ehlers-Danlos vascular type 4
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Ehlers-Danlos syndrome type kyphoscoliosis, type 6
Panel: 1 Complete sequencing of gene PLOD1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Ehlers-Danlos syndrome type arthrochalasia, type VIIA
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Ehlers-Danlos syndrome type arthrochalasia, type VIIB
DNA
TAT: 10-14 weeks
Conservation: 4ºC
Fraser syndrome
Panel: 1 Sequencing of exon 60 of gene 29,31,40,41,49,53,57,58 and FRAS1
DNA
Panel: 2 Sequencing of remaining exons FRAS1
DNA
Complete sequencing of gene FREM2
DNA
Fraser syndrome
DNA
TAT: 4-6 weeks
Conservation: 4ºC
321
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322
Goltz syndrome. Focal dermal hypoplasiadue to tenascin X deficiency
Panel: 1 Gene sequencing PORCN
DNA
immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX syndrome
Panel: 1 Complete sequencing of FOXP3 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Holt-Oram syndrome
Panel: 1 Complete sequencing of gene TBX5
DNA
TAT: 4-6 weeks
Conservation: 4ºC
trichorhinophalangeal syndrome, type I; Langer Giedion syndrome
Panel: 1 Analysis of deletions in TRPS1 and EXT1
DNA
TAT: Please inquire
Conservation: 4ºC
Complete sequencing of gene TRPS1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
LEOPARD syndrome type 1
Panel: 1 Y279C mutation Analysis, A461T, G464A and PTPN11 gene T468M
DNA
TAT: 2-3 weeks
Conservation: 4ºC
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 3 Screening of exons exon 7, 12 and 13 of PTPN11
DNA
TAT: 4 weeks
Conservation: 4ºC
LEOPARD syndrome type 2
Panel: 1 Complete sequencing of gene RAF1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Marfan syndrome
Panel: 1 Complete sequencing of FBN1 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 FBN1 gene deletions Analysis
DNA
TAT: 4 weeks
Conservation: 4ºC
Loeys-Dietz syndrome, type 1A, 2A
Panel: 1 Complete sequencing of gene TGFBR1
DNA
Loeys-Dietz syndrome, type 1B, 2B
Panel: 1 Complete sequencing of gene TGFBR2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Noonan syndrome type 1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of K-RAS oncogene
DNA
Panel: 1 Complete sequencing of gene SOS1
DNA
Panel: 1 Complete sequencing of gene RAF1
DNA
Simpson-Golabi-Behmel syndrome type 1
Panel: 1 Complete sequencing of GPC3 gene
DNA
Panel: 2 Analysis GPC3 gene MLPA
DNA
Panel: 3 Complete sequencing of gene deletions GPC3 + MLPA
DNA
TAT: 6-8 weeks
Conservation: 4ºC
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324
townes brocks syndrome
Panel: 1 Complete sequencing of gene SALL1
DNA
Panel: 2 Analysis of large deletions by MLPA SALL1
DNA
syndrome VATER-hydrocephalus (VACTERL)
Panel: 1 Complete sequencing of PTEN gene
DNA
TAT: 3 weeks
Conservation: 4ºC
Mutation A3243G mtDNA asoiada to VACTERL, tRNA (LEU)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
oral-facial-digital syndrome type 1
Panel: 1 Complete sequencing of gene OFD1
DNA
Genetic diagnosis of
musculoskeletal diseases
fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1
Panel: 1 Complete sequencing of gene RAPSN
DNA
Complete sequencing of gene DOK7
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Brachydactyly type A1
Panel: 1 Complete sequencing of gene IHH
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Brachydactyly type A2 (Mohr-Wriedt Brachydactyly type)
Panel: 1 Complete sequencing of gene BMPR1B
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Complete sequencing of BMP2 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
325
Brachydactyly type B1
Complete sequencing of gene ROR2
DNA
Brachydactyly type B2
Panel: 1 Complete sequencing of gene NOG
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Brachydactyly type C
Panel: 1 Complete sequencing of GDF5 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Brachydactyly type D & E
Panel: 1 Complete sequencing of gene HOXD13
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Analysis expansion (GCN) n in exon 1 - HOXD13 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Brachydactyly type e2
Complete sequencing of gene PTHLH
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Johanson-Blizzard syndrome
Panel: 1 Complete sequencing of gene UBR1
DNA
TAT: 14-18 weeks
Conservation: 4ºC
myopathy, congenital, with fiber-type disproportion
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Complete sequencing of gene ACTA1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 3
Complete sequencing of gene SEPN1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Human Genetics
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Frontometaphyseal dysplasia
Panel: 1 Panel: 2 OMIM Gene/Locus: 300017
Exons 44-47 sequencing and gene 3-5,22,28-29 FLNA
DNA
Sequencing of remaining exons FLNA
DNA
Asphyxiating thoracic dystrophy type 2
Panel: 1 Complete sequencing of IFT80 gene
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Asphyxiating thoracic dystrophy type 3
Panel: 1 Complete sequencing of gene DYNC2H1
DNA
TAT: 25-30 weeks
Conservation: 4ºC
myopathy, SEPN1-related
Panel: 1 Complete sequencing of gene SEPN1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
central core disease of muscle
Panel: 1 Sequencing of exon 45 (hotspots) RYR1 gene: exons 2, 3, 6, 8-15, 17, 34, 38-
40, 42-48, 51, 52, 67, 71, 73, 85, 86, 90, 94, 95, 97, 98-104
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Panel: 2 Sequencing of remaining exons of RYR1 gene
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Complete sequencing STAT5B gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
myopathy myofibrillar type 1
Panel: 1 Complete sequencing of gene DES
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene CRYAB
DNA
TAT: 3-4 weeks
Conservation: 4ºC
327
Complete sequencing of gene LDB3
DNA
Panel: 1 Complete sequencing of gene FLNC
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene BAG3
DNA
TAT: 3-4 weeks
Conservation: 4ºC
osteogenesis imperfecta type 1
DNA
TAT: 10-14 weeks
Conservation: 4ºC
osteogenesis imperfecta types 2 to 4
DNA
TAT: 10-14 weeks
Conservation: 4ºC
DNA
TAT: 10 weeks
Conservation: 4ºC
Complete sequencing of genes COL1A1 and COL1A2e
DNA
TAT: 16-20 weeks
Conservation: 4ºC
osteogenesis imperfecta type 7 autosomal recessive
Panel: 1 CRTAP gene sequencing
DNA
TAT: 4-6 weeks
Conservation: 4ºC
osteogenesis imperfecta type 8 autosomal recessive
Panel: 1 Complete sequencing of gene LEPRE1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
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328
Complete sequencing of gene PPIB
DNA
Panel: 1 Complete sequencing of FKBP10 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
syndactyly type 5; sinpolidactilia type 1
Panel: 1 Complete sequencing of gene HOXD13
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Analysis expansion (GCN) n in exon 1 - HOXD13 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
sinpolidactilia type 2
Panel: 1 Complete sequencing of gene FBLN1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Holt-Oram syndrome
Panel: 1 Complete sequencing of gene TBX5
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of large deletions by MLPA gene TBX5
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Kenny-Caffey syndrome type 1
Panel: 1 Complete sequencing of gene TBCE
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Klippel-Feil syndrome type 1
Panel: 1 Complete sequencing of gene GDF6
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing of gene PAX1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
329
achondroplasia
Panel: 1 Analysis of G1138C and G1138A mutations on FGFR3 gene
DNA
Panel: 2 Analysis of G380R and G375C mutation in FGFR3 gene
DNA
Panel: 2 Complete sequencing of FGFR3 gene
DNA
achondrogenesis type 1B
DNA
TAT: 3-4 weeks
Conservation: 4ºC
achondrogenesis type 2
DNA
TAT: 6 weeks
Conservation: 4ºC
congenital sacral agenesis (Currarino syndrome)
Panel: 1 Complete sequencing of gene MNX1 (HLXB9)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene MNX1 (HLXB9)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
congenital contractural arachnodactyly; Beals-Hecht syndrome
Panel: 1 Sequencing of exons 15, 22 to 36 FBN2 gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 Sequencing of remaining exons 49 FBN2
DNA
distal arthrogryposis type 1A
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of mutartion R91G of TPM2
DNA
TAT: 2 weeks
Conservation: 4ºC
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330
Distal arthrogryposis type 2B
Panel: 1 Panel: 2 Panel: 3 Panel: 4 Panel: 5 OMIM Gene/Locus: 190990; 191043; 600692
Type 1: TPM2 (R91G); Type 2b: TNNI2 (166del, 175del, R156X, R174Q) TNNT3 (R63H)
DNA
Complete sequencing of gene MYH3
DNA
Complete sequencing of gene MYH3
DNA
Complete sequencing of gene TNNI2
DNA
Complete sequencing of gene TNNT3
DNA
Atelosteogenesis type 1
Panel: 1 Sequencing exons 2-5 and 27-33 FLNB gene
DNA
TAT: 5 weeks
Conservation: 4ºC
Atelosteogenesis type 2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Beare-Stevenson cutis gyrata
Panel: 1 Tyr375cys mutation analysis and FGFR2 gene ser372cys
DNA
TAT: Please inquire
Conservation: 4ºC
metaphyseal chondrodysplasia Jansen type
Panel: 1 Complete sequencing of gene PTHR1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
metaphyseal chondrodysplasia McKusick type (cartilage-hair hypoplasia)
Panel: 1 Sequencing of gene promoter region RMRP
DNA
TAT: 3-4 weeks
Conservation: 4ºC
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metaphyseal chondrodysplasia Schmid type
DNA
TAT: 3-4 weeks
Conservation: 4ºC
rhizomelic chondrodysplasia punctata type 1
Panel: 1 Complete sequencing of gene PEX7
DNA
TAT: 6-8 weeks
Conservation: 4ºC
rhizomelic chondrodysplasia punctata type 2
Panel: 1 Complete sequencing of gene GNPAt(DHAPAT)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
chondrodysplasia punctata X-linked - recessive
Panel: 1 Complete sequencing of gene ARSE
DNA
chondrodysplasia punctata X-linked - dominant
Panel: 1 Complete sequencing of gene EBP
DNA
TAT: 3-4 weeks
Conservation: 4ºC
craniosynostosis; Jackson-Weiss syndrome
Panel: 1 Complete sequencing of gene FGFR1
DNA
TAT: 9 weeks
Conservation: 4ºC
Complete sequencing of gene FGFR2
DNA
TAT: 5 weeks
Conservation: 4ºC
Complete sequencing of FGFR3 gene
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Sequencing of exon 7 FGFR1, FGFR2 exon 7 and exons 6 and 8 of FGFR3 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Human Genetics
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332
Muenke nonsyndromic coronal craniosynostosis
DNA
spondylocostal dysostosis type 1; Jarcho-Levin syndrome type 1
Panel: 1 Complete sequencing of gene DLL3
DNA
TAT: 5 weeks
Conservation: 4ºC
spondylocostal dysostosis type 2
Panel: 1 Complete sequencing of gene MESP2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene LFNG
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene HES7
DNA
TAT: 4-6 weeks
Conservation: 4ºC
acromesomelic dysplasiamaroteaux type
Panel: 1 Complete sequencing of gene NPR2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
campomelic dysplasia
Panel: 1 Complete sequencing of gene SOX9
DNA
TAT: 2-3 weeks
Conservation: 4ºC
cleidocranial dysplasia (dysostosis)
Panel: 1 Complete sequencing of gene RUNX2
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of deletions and duplications by MLPA in the RUNX2 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
333
dysplasia (dysotosis) cráneofrontonasal
Panel: 1 Complete sequencing of gene EFNB1
DNA
diastrophic dysplasia
DNA
TAT: 3-4 weeks
Conservation: 4ºC
multiple epiphyseal dysplasia type 1, dominant inheritance
Panel: 1 Analysis of mutations in gene exons 10-15 COMP
DNA
TAT: 3-4 weeks
Panel: 2 Analysis of mutations in exons 8-9; 16-19 COMP gene
DNA
TAT: 3-4 weeks
Panel: 3 Sequencing of remaining exons COMP
DNA
TAT: 3-4 weeks
Panel: 4 Sequencing of remaining exons COMP
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
multiple epiphyseal dysplasia type 4, recessive
DNA
TAT: 3-4 weeks
Conservation: 4ºC
mutiple epiphyseal dysplasia type 5
Panel: 1 Analysis of mutations in exon 2 of gene MATN3
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Screening COMP gene exons 8-14 and exon 2 of gene MATN3
DNA
TAT: 4 weeks
Conservation: 4ºC
mutiple epiphyseal dysplasia type 2, 3, 6
OMIM Phenotype: 600204; 600969; 614135
OMIM Gene/Locus: 120260; 120270; 120210
Panel: 1 Analysis of mutations in COL9A1 gene (exon 8), COL9A2 and COL9A3 (exon 3)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Human Genetics
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334
spondyloperipheral dysplasia
DNA
immunoosseous dysplasia, Schimke type
Panel: 1 Gene sequencing SMARCAL1
DNA
TAT: 9-12 weeks
Conservation: 4ºC
dysplasia Kniest syndrome (KNIEST)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
thanatophoric dysplasia, type I; Saddan dysplasia
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Facio-Scapulohumeral dystrophy
Panel: 1 FSHD region gene D4Z4 Expansion
DNA
TAT: 3-4 months
Conservation: 4ºC
Steinert’s myotonic dystrophy
Panel: 1 Analysis of CTG triplet expansion PKDM gene (DMPK)
DNA
TAT: 3 weeks
Conservation: 4ºC
myotonic dystrophy type 2
Panel: 1 Analysis CCTG triplet expansion CNBP gene (ZNF9)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Fukuyama congenital muscular dystrophy
Panel: 1 Complete sequencing of gene FKTN (FCMD)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
335
muscular dystrophy Duchenne and Becker
Panel: 1 Panel: 2 Panel: 3 Analysis of deletions / duplications of DMD gene (dystrophin) by MLPA
DNA
Complete sequencing of DMD gene
DNA
Carriers Analysis
DNA
muscular dystrophy, congenital merosin-deficient, 1A
Panel: 1 Complete sequencing of gene LAMA2
DNA
muscular dystrophy-dystroglycanopathy (Limb-girdle), type C, 5
Panel: 1 Complete sequencing of FKRP gene
DNA
muscular dystrophy emery-dreyfuss type 1 X-linked
Panel: 1 Complete sequencing of gene EMD
DNA
TAT: 9 weeks
Conservation: 4ºC
muscular dystrophy emery-dreyfuss type 2 and type 3
DNA
TAT: 8 weeks
Conservation: 4ºC
muscular dystrophy, Limb-girdle, type 1A
Panel: 1 Complete sequencing of gene TTID; MYOT
DNA
TAT: 4-6 weeks
Conservation: 4ºC
muscular dystrophy, Limb-girdle, type 1B
DNA
TAT: 8 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
336
336
muscular dystrophy, Limb-girdle, type 1C
Panel: 1 Complete sequencing of gene CAV3
DNA
muscular dystrophy, Limb-girdle, type 2A
Panel: 1 Complete sequencing of CAPN3 gene
DNA
muscular dystrophy, Limb-girdle, type 2B
Panel: 1 Complete sequencing of gene DYSF
DNA
muscular dystrophy, Limb-girdle, type 2C
Panel: 1 Complete sequencing of gene SGCG
DNA
muscular dystrophy, Limb-girdle, type 2D
Panel: 1 Complete sequencing of gene SGCA
DNA
muscular dystrophy, Limb-girdle, type 2E
Panel: 1 Complete sequencing of gene SGCB
DNA
muscular dystrophy, Limb-girdle, type 2F
Panel: 1 Complete sequencing of gene SGCD
DNA
muscular dystrophy, Limb-girdle, type 2G
Panel: 1 Complete sequencing of gene TCAP
DNA
337
muscular dystrophy, Limb-girdle, type 2H
Panel: 1 Complete sequencing of gene TRIM32 (BBS11)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
muscular dystrophy, Limb-girdle, type 2I
Panel: 1 Complete sequencing of FKRP gene
DNA
muscular dystrophy, Limb-girdle, type C1
Panel: 1 Complete sequencing of gene POMT1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
muscular dystrophy oculo-pharyngeal
Panel: 1 Analysis CGC in gene expansion PABPN1
DNA
TAT: 2-3 weeks
Conservation: 4ºC
microphthalmia, syndromic 2; oculo faciocardio dental dystrophy
Panel: 1 Complete sequencing of gene BCOR
DNA
TAT: 9-12 weeks
Conservation: 4ºC
hanhart dwarfism; pituitary hormone deficiency, combined type 2
Panel: 1 Complete sequencing of gene PROP1
DNA
TAT: Please inquire
Conservation: 4ºC
growth hormone deficiency with pituitary anomalies
DNA
TAT: 4 weeks
Conservation: 4ºC
Laron dwarfism
Panel: 1 Complete sequencing GHR gene
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
338
338
multiple enchondromatosis; Ollier syndrome
Panel: 1 Complete sequencing of gene PTHR1 (PTH1R)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Camurati-Engelmann, progressive diaphyseal dysplasia
Panel: 1 Screening TGFB1 gene exon 4
DNA
Panel: 2 Complete sequencing of gene TGFB1
DNA
Canavan disease
Panel: 1 Screening ASPA gene mutations
DNA
Panel: 2 Complete sequencing of gene ASPA
DNA
McArdle - myophosphorylase deficiency - glycogen storage disease type 5
Panel: 1 Mutations R49X, G204S, W797R, Y84X, 708/709 PYGM gene
DNA
TAT: 3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene PYGM
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Axensnfeld Rieger syndrome type 1 and 3
Panel: 1 Complete sequencing of gene PITX2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing of gene FOXC1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
MLPA analysis of deletions / duplications in PITX2 and FOXC1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
muscular dystrophy-dystroglycanopathy type A, 3 (congenital with brain and eye anomalies)
Panel: 1 Complete sequencing of gene POMGnT1
DNA
Panel: 2 POMGNT1 gene MLPA Analysis
DNA
339
short stature (idiopathic short stature)
Panel: 1 Complete sequencing of SHOX gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of deletions / duplications in SHOX
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hereditary multiple exostoses type 1 (multiple osteochondromas)
Panel: 1 Complete sequencing of gene EXT1
DNA
TAT: 5 weeks
Conservation: 4ºC
Complete sequencing of gene EXT2
DNA
TAT: 5 weeks
Conservation: 4ºC
Analysis of large deletions by MLPA - EXT1 and EXT2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
fibrodysplasia ossificans progressiva
Panel: 1 Complete sequencing of ACVR1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
progressive osseous heteroplasia
Panel: 1 Complete sequencing of gene GNAS
DNA
TAT: 4-6 weeks
Conservation: 4ºC
hypochondroplasia
Panel: 1 Analysis of mutations I538V, N540T, N540S, N540K, K650N, K650M, FGFR3 gene K650Q
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Screening exons 7, 8, 11 and 13 of FGFR3 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3 Analysis of mutation N540K in FGFR3
DNA
TAT: 1 week
Conservation: 4ºC
hypoparathyroidism
Panel: 1 Complete sequencing of PTH gene
DNA
TAT: Please inquire
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
340
340
myasthenic syndrome congenital
OMIM Phenotype: 601462; 254210; 608931 OMIM Gene/Locus: 100690 118490; 100725; 601592
Panel: 1 CHRNA1 (G153S), CHAT(I305T), and CHRNE (G 1267del INSG exon 12 and 1293) and RAPSN (N88K exon 2)
DNA
TAT: 2 weeks
Conservation: 4ºC
myasthenia, Limb-girdle, familial
Panel: 1 Complete sequencing of gene DOK7
DNA
TAT: 4 weeks
Conservation: 4ºC
microcephaly 1, primary, autosomal recessive
Panel: 1 Complete sequencing of gene MCPH1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene CDK5RAP2 (MCPH3)
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene ASPM (MCPH5)
DNA
TAT: 12 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene CENPJ (MCPH6)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of gene STIL (MCPH7)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
341
central core congenital myopathy
Sequencing of exon 45 (hotspots) RYR1 gene: exons 2, 3, 6, 8-15, 17, 34, 38-
40, 42-48, 51, 52, 67, 71, 73, 85, 86, 90, 94, 95, 97, 98-104
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Sequencing of remaining exon of RYR1 gene: DNA
TAT: 12-16 weeks
Conservation: 4ºC
myofibrillar myopathy type 3
Panel: 1 Complete sequencing of gene TTID / MYOT
DNA
TAT: 4-6 weeks
Conservation: 4ºC
X-linked myotubular myopathy (centronuclear myopathy)
Panel: 1 Complete sequencing of gene MTM1
DNA
TAT: 5 weeks
Conservation: 4ºC
Panel: 2 Analysis by MLPA deletion / duplication MTM1 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
nemaline myopathy 1
DNA
TAT: 4-6 weeks
Conservation: 4ºC
nemaline myopathy 2
Panel: 1 Analysis of homozygous deletion of exon 55 - Gene NEB
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene NEB
DNA
TAT: 25-30 weeks
Conservation: 4ºC
nemaline myopathy 3
Panel: 1 Complete sequencing of gene ACTA1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
nemaline myopathy 4
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
342
342
nemaline myopathy 5
Complete sequencing of gene TNNT1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
nemaline myopathy 7
Panel: 1 Complete sequencing of gene CFL2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
myotonia congenita (Thomsen’s disease / Becker’s disease)
DNA
TAT: 6 weeks
Conservation: 4ºC
osseus heteroplasia, progressive; Albright hereditary osteodystrophya
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of methylation of region 20q13.3 (GNAS)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
autosomal recessive osteopetrosis type 1; Albers-Schonberg disease
Panel: 1 Complete sequencing of gene TCIRG1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
autosomal recessive osteopetrosis type 2
Panel: 1 Complete sequencing of gene TNFSF11
DNA
TAT: 3-4 weeks
Conservation: 4ºC
osteopetrosis autosomal recessive type 3 (with renal tubular acidosis)
Panel: 1 Complete sequencing of gene CA2
DNA
TAT: 3-4 weeks
Conservation: 4ºC
osteopetrosis autosomal recessive type 4 (infantile malignant type 2)
DNA
TAT: 8-10 weeks
Conservation: 4ºC
343
osteopetrosis autosomal recessive type 5 (infantile malignant type 3)
Panel: 1 Complete sequencing of gene OSTM1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
autosomal recessive osteopetrosis type 6
Panel: 1 Complete sequencing of gene PLEKHM1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
osteopetrosis autosomal recessive type 7 (with hypogammaglobulinemia)
Panel: 1 Complete sequencing of gene TNFRSF11A
DNA
TAT: 7-9 weeks
Conservation: 4ºC
osteopetrosis autosomal dominant type 2
DNA
TAT: 8-10 weeks
Conservation: 4ºC
osteoporosis
Panel: 1 Polymorphisms BsmI, ApaI, TaqI and FokI in VDR gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Analysis of polymorphism in gene Pro463Leu CTR (CALCR)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
PCOL2 Analysis of polymorphisms (-1997g / T) and Sp1 (1546 G / T) COL1A1 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
PvuII Analysis of polymorphisms (397T> C) and Xbal (351 C> G) ESR1 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Analysis of polymorphisms -572 -174 GC and GC in IL6 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
COL1A1 genotype Ss and ss
DNA
TAT: 10 days
Conservation: 4ºC
Complete sequencing of gene BMP15
DNA
TAT: 2 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
344
344
vitamin d receptor, bone mineral density and rickets type 2A
Panel: 1 Panel: 2 BsmI polymorphism intron 7 Vitamin D Receptor
DNA
TAT: 2 weeks
Conservation: 4ºC
FM1, F/M4, Fokl polymorphism 5 ‘Vitamin D Receptor
DNA
TAT: 2 weeks
Conservation: 4ºC
hyperkalemic periodic paralysis (HYPP)
Panel: 1 Sequencing exons 9, 12-14, 19 and 21-24 SCN4A gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
DNA
TAT: 7 weeks
Conservation: 4ºC
Panel: 3 Analysis of mutation T704M in SCN4A gene
DNA
TAT: 10 days
Conservation: 4ºC
Panel: 4 Mutations L6891, I693T, T704M, A1156T, M1360V, 1495F, M1592V, F1490L + SCN4A gene M1493I
DNA
TAT: Please inquire
Conservation: 4ºC
Panel: 5 Sequencing of gene exons SCN4A 13,19,21-24
DNA
TAT: Please inquire
Conservation: 4ºC
hyperkalemic periodic paralysis (HOKPP)
Panel: 1 Mutations in exons 11 and 30 of gene CACNA1S
DNA
TAT: 3 weeks
Analysis of mutations in exon 12 of gene SCN4A
DNA
TAT: 2-3 weeks
Complete sequencing of gene CACNA1S
DNA
TAT: 12-16 weeks
Complete sequencing of gene KCNJ2
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
thyrotoxic periodic paralysis
Panel: 1 Complete sequencing of gene CACNA1S
DNA
TAT: 12-16 weeks
Conservation: 4ºC
345
paramyotonia congenita of von Eulenburg
Panel: 1 Sequencing exons 9, 12-14, 19 and 21-24 SCN4A gene
DNA
DNA
pycnodysostosis
Panel: 1 Gene sequencing CTSK
DNA
TAT: Please inquire
pseudoachondroplasia
Panel: 1 Sequencing of exons 13, 14 and 16 COMP gene
DNA
TAT: 2-3 weeks
Panel: 2 Screening COMP gene exon 13
DNA
TAT: 4 weeks
Panel: 3 Screening exons 8-14 and 15-19 COMP gene
DNA
TAT: 7 weeks
Panel: 4 Sequencing remaining exons COMP
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
pseudohypoparathyroidism type IA,IB,IC; pseudopseudohipoparatiroidismo; McCune
Albright syndrome; osseus heteroplasia; acromegaly
OMIM Phenotype: 103580; 603233; 612462; 612463; 174800; 166350; 102200
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Analysis of methylation of region 20q13.3 (GNAS)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
cherubism
Panel: 1 Sequencing exon 9 gene SH3BP2
DNA
TAT: 4 weeks
Conservation: 4ºC
3M syndrome type 1
Panel: 1 Complete sequencing of gene CUL7
DNA
TAT: 8.-10 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
346
346
3M syndrome type 2
Complete sequencing of gene OBSL1
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Andersen-Tawil syndrome
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Apert syndrome
Panel: 1 Analysis of mutations S252W and P253R in FGFR2 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Buschke-Ollendorff syndrome (osteopoikilosis)
Panel: 1 Complete sequencing of gene LEMD3 (MAN1)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
C syndrome; Opitz trigonocephaly syndrome
Panel: 1 CD96 gene mutation T280M
DNA
TAT: 2 weeks
Conservation: 4ºC
Crouzon syndrome
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Crouzon syndrome with acanthosis nigricans
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Ellis-Van Creveld syndrome, chondroectodermal dysplasia
Panel: 1 EVC gene sequencing
DNA
347
Fuhrmann syndrome; fibular aplasia or hypoplasia
Panel: 1 Wnt7a gene sequencing
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Jackson-Weiss syndrome
DNA
TAT: 7-9 weeks
Conservation: 4ºC
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Larsen syndrome,
Panel: 1 Sequencing exons 2-5 and 27-33 FLNB gene
DNA
TAT: 5 weeks
Conservation: 4ºC
Leri-Weill syndrome, dyschondrosteosis
Panel: 1 Complete sequencing of SHOX gene
DNA
Panel: 2 MLPA analysis of deletions / duplications in SHOX
DNA
McCune-Albright
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 Analysis of mutations R201C and R201H - GNAS gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 3 Screening GNAS gene
DNA
TAT: 2 weeks
Conservation: 4ºC
McLeod syndrome
Panel: 1 Complete sequencing of XK gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
Human Genetics
348
348
Muenke syndrome
Panel: 1 Analysis of FGFR3 gene mutation Pro250Arg
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Nijmegen breakage syndrome
Panel: 1 C.657del5 mutation Analysis in NBS1 gene (NBN)
DNA
TAT: 4 weeks
Panel: 2 Sequencing of exons 6 to 10 NBS1 gene (NBN)
DNA
TAT: 3-4 weeks
Panel: 3 Sequencing of remaining exons of NBS1 gene (NBN)
DNA
TAT: 6-8 weeks
Panel: 4 Complete sequencing of gene NBS1 (NBN)
DNA
TAT: Please inquire
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
otopalatodigital syndrome type 1 and 2
Panel: 1 Sequencing of exons 3-5 and 28-29 of gene FLNA
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene FLNA
DNA
TAT: Please inquire
Conservation: 4ºC
Pallister-Hall syndrome / syndrome Greig (cefalopolisindactilia)
Panel: 1 Complete sequencing of gene GLI3
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 Analysis of large deletions by MLPA GLI3 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 3 Screening of exons 10-14 of GLI3 gene
DNA
TAT: 50 days
Conservation: 4ºC
fetal akinesia deformation sequence, Pena-Shokeir syndrome type 1, arthrogryposis
multiplex congenita with pulmonary hypoplasia
Panel: 1 Complete sequencing of gene DOK7
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Complete sequencing of gene RAPSN
DNA
TAT: 5 weeks
Conservation: 4ºC
349
Pfeiffer syndrome
DNA
TAT: 9 weeks
Conservation: 4ºC
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Sequencing FGFR1 (exon 7) and FGFR2 (exons 7,8,13,14 and 15)
DNA
TAT: 5 weeks
Conservation: 4ºC
Robinow syndrome autosomal recessive
Panel: 1 Complete sequencing of gene ROR2
DNA
Robinow syndrome autosomal dominant
Panel: 1 Complete sequencing of gene WNT5A
DNA
Russell-Silver syndrome
OMIM Gene/Locus: Panel: 1 Analysis of methylation and deletion / duplication of chromosome region 11p15.5
DNA
Saethre Chotzen syndrome
Panel: 1 Complete sequencing of gene TWIST1
DNA
DNA
TAT: 9 weeks
Conservation: 4ºC
Analysis of deletions in TWIST1 by MLPA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Schwartz-Jampel syndrome type 1
Panel: 1 Complete sequencing of gene HSPG2
DNA
Human Genetics
Human Genetics
Human Genetics
Human Genetics
350
350
Seckel syndrome type 1
OMIM Phenotype: 210600 Panel: 1 Panel: 2 OMIM Gene/Locus: 601215
A2102G mutation in exon 9 of ATR gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Complete sequencing of ATR gene
DNA
TAT: 14-18 weeks
Conservation: 4ºC
microcephalic osteodysplastic primordial dwarfism, type II
Panel: 1 Complete sequencing of gene PCNT
DNA
TAT: 14-18 weeks
Conservation: 4ºC
Smith-Magenis syndrome
Panel: 1 Complete sequencing of RAI1 gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Panel: 2 Analysis of chromosome 17p11.2 deletions, CGH microarray
DNA
TAT: 4 weeks
Conservation: 4ºC
DNA
TAT: 12-16 weeks
Conservation: 4ºC
Treacher Collins syndrome
Panel: 1 Complete sequencing of gene TCOF1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Van der Woude syndrome
Panel: 1 Complete sequencing of gene IRF6
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of deletions / duplications IRF6 gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Walker-Warburg syndrome POMT1 related
DNA
TAT: Please inquire
Conservation: 4ºC
351
Walker-Warburg syndrome POMT2 related
DNA
TAT: 7-9 weeks
Conservation: 4ºC
warburg micro syndrome type 1
Panel: 1 Analysis RAB3GAP1 gene mutations
DNA
TAT: 4 weeks
Conservation: 4ºC
Panel: 2 Gene sequencing RAB3GAP1
DNA
TAT: Please inquire
Conservation: 4ºC
Weill Marchesani syndrome type 1, recessive
Panel: 1 ADAMTS10 gene sequencing
DNA
TAT: 4 weeks
Conservation: 4ºC
Weill Marchesani syndrome type 2, autosomal dominant
Panel: 1 Complete sequencing of FBN1 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 FBN1 gene deletions Analysis
DNA
TAT: 4 weeks
Conservation: 4ºC
Wolf-Hirschhorn syndrome
Panel: 1 MLPA Analysis by deletions in region WHSC1
DNA
TAT: 4 weeks
Conservation: 4ºC
susceptibility to malignant hyperthermia syndrome type 1 or King
Panel: 1 Sequencing of exon 45 (hotspots) RYR1 gene: exons 2, 3, 6, 8-15, 17, 34, 38-
40, 42-48, 51, 52, 67, 71, 73, 85, 86, 90, 94, 95, 97, 98-104
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Panel: 2 Sequencing of remaining exons of RYR1 gene
DNA
Panel: 3 Sequencing exons 2 and 6 to 18 RYR1 gene
DNA
Panel: 4 Sequencing exons 39 to 48 RYR1 gene
DNA
Panel: 5 Sequencing exons 85 to 104 RYR1 gene
DNA
Human Genetics
Human Genetics
Human Genetics
Genetic diagnosis of neoplastic
diseases and cancer
Human Genetics
352
352
susceptibility to malignant hyperthermia type 5
Panel: 1 Analysis of mutation R1086H in CACNA1S gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene CACNA1S
DNA
lung adenocarcinoma
Complete sequencing of BRAF oncogene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
hepatic adenomas, familial
Panel: 1 Complete sequencing of HNF1A gene (TCF1)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
susceptibility to liver cirrhosis
Panel: 1 Gly61cys analysis of mutations in gene and KRT8 tyr53his
DNA
TAT: Conservation:
Complete sequencing of gene PNPLA3
DNA
TAT: 2 weeks
Conservation: 4ºC
pituitary adenoma growth hormone secreting
Panel: 1 Complete sequencing of AIP gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Breast and ovarian cancer susceptibility
Panel: 1 Mutations exons 2, 3, 5, 8, 11, 13, 18, 20 and 23 in BRCA1
DNA
TAT: 4-6 weeks
Conservation:
Panel: 2 Complete sequencing of exon 11 of BRCA1 gene
DNA
TAT: 3-4 weeks
Conservation:
Panel: 3 Complete sequencing of BRCA1 gene
DNA
TAT: 8 weeks
Conservation:
Genotyping of family mutation in BRCA1 or BRCA2
DNA
TAT: 2-3 weeks
Conservation:
4ºC
4ºC
4ºC
4ºC
diseases and cancer
353
Breast and ovarian cancer susceptibility
Mutations in exons 2, 10, 11 and 23 of BRCA2 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 6 Complete sequencing of exon 11 of BRCA2 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 7 Complete sequencing of BRCA2 gene
DNA
TAT: 10 weeks
Conservation: 4ºC
Complete sequencing of BRCA1 and BRCA2
DNA
TAT: 10 weeks
Conservation: 4ºC
Analysis deletions / duplications BRCA1
DNA
TAT: 2 weeks
Conservation: 4ºC
Analysis deletions / duplications BRCA2
DNA
TAT: 2 weeks
Conservation: 4ºC
Allelic loss (LOH) in BRCA1 and BRCA2
DNA
TAT: 2 weeks
Conservation: 4ºC
BRCA 1 (screening consensus mutations in hereditary cancer in Spanish population)
DNA
TAT: 2 weeks
Conservation: 4ºC
BRCA 2 (screening consensus mutations in hereditary cancer in Spanish population)
DNA
TAT: 2 weeks
Conservation: 4ºC
Analysis by MLPA deletions / duplications in BRCA1 and BRCA2
DNA
TAT: 4 weeks
Conservation: 4ºC
Screening 22 mutations BRCA-1 and BRCA-2 mutations in hereditary cancer consensus Spanish population
DNA
TAT: 2 weeks
Conservation: 4ºC
familial and male breast cancer
Panel: 1 Complete sequencing of gene PALB2 (FANCN)
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
354
354
estrogen receptor polymorphisms
Panel: 1 Complete sequencing of ER gene
DNA
TAT: 2 weeks
Conservation: 4ºC
C-ERB B2 expression (various tumors)
Panel: 1 Overexpression / amplification of HER-2-neu
DNA
TAT: 3 weeks
Conservation: 4ºC
familial nonpolyposis colon cancer; Lynch syndrome
OMIM Phenotype: 120435; 276300; 614350; 614337
Panel: 1 Microsatellite instability: BAT25, BAT26, D5S346, D17S250, D2S123, NR21, NR22 and NR24
DNA
Complete sequencing of MLH1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 3 Analysis of large deletions by MLPA MLH1 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Complete sequencing of gene MSH2
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Panel: 5 Analysis of large deletions by MLPA MSH2 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Analysis by MLPA deletions / duplications of genes MLH1 / MSH2
DNA
TAT: 2 weeks
Conservation: 4ºC
Complete sequencing of MSH6 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Complete sequencing of gene PMS2
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Complete sequencing of gene PMS1
DNA
TAT: 7-9 weeks
Conservation: 4ºC
diseases and cancer
355
colorectal cancer
Panel: 1 Complete sequencing of KRAS oncogene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
DNA
TAT: 6-8 weeks
Conservation: 4ºC
gastric cancer somatic
DNA
TAT: 3-4 weeks
Conservation: 4ºC
gastric cancer hereditary diffuse
Panel: 1 Complete sequencing of CDH1 gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 Analysis of specific mutations in gene CDH1
DNA
prostate cancer, susceptibility to
Panel: 1 Complete sequencing of gene CHEK2
DNA
TAT: 4-6 weeks
Conservation:
Promoter methylation of glutathione S-transferase P1 (GSTP1)
DNA
TAT: Please inquire
Conservation:
Complete sequencing of BRCA1 gene
DNA
TAT: 6-8 weeks
Conservation:
Complete sequencing of BRCA2 gene
DNA
TAT: 7-9 weeks
Conservation:
Complete sequencing of BRCA1 and BRCA2
DNA
TAT: 12-16 weeks
Conservation:
4ºC
4ºC
4ºC
4ºC
4ºC
somatic lung cancer
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
356
356
nonsmall cell lung cancer
OMIM Phenotype: 211980 Panel: 1 OMIM Gene/Locus: 164757
DNA
TAT: 6-8 weeks
Conservation: 4ºC
bladder cancer
DNA
TAT: 3-4 weeks
Conservation: 4ºC
pediatric adrenocortical carcinoma
Panel: 1 Complete sequencing of TP53
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Analysis of mutations in exons 5-8 of TP53
DNA
TAT: 2-3 weeks
Conservation: 4ºC
medullary thyroid carcinoma
Panel: 1 Mutations in exons 2, 10, 11, 13 to 16 RET gene
DNA
TAT: 3-4 weeks
DNA
TAT: 7-9 weeks
Panel: 3 Mutations in exons 10,11,13 and 14 of RET gene
DNA
TAT: 2 weeks
Sequencing of exons 4,8 and 14-17 of NTRK1 gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
papillary thyroid carcinoma
Panel: 1 Analysis of 2.9-kb XbaI/SmaI restriction fragment of NTRK1 gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
pancreatic cancer
DNA
TAT: 3-4 weeks
Conservation: 4ºC
diseases and cancer
357
renal cell carcinoma type 1
OMIM Phenotype: 144700 Panel: 1 Panel: 2 OMIM Gene/Locus: 608537
Complete sequencing of VHL gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
MLPA analysis of deletions / duplications in VHL gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
hereditary papillary renal carcinoma
Panel: 1 Complete sequencing of MET gene
DNA
TAT: 7-9 weeks
Conservation: 4ºC
Cowden disease
DNA
MLPA analysis of deletions in PTEN and BMPR1A
DNA
TAT: 6-8 weeks
Conservation: 4ºC
juvenile polyposis syndrome
Panel: 1 Complete sequencing of gene BMPR1A
DNA
TAT: 3-4 weeks
Conservation: 4ºC
pheochromocytoma
Panel: 1 Complete sequencing of VHL gene
DNA
TAT: 2-3 weeks
Panel: 2 MLPA analysis of deletions / duplications in VHL gene
DNA
TAT: 3-4 weeks
Gene sequencing SDHB/PGL4
DNA
TAT: 5 weeks
Gene sequencing SDHC/PGL3
DNA
TAT: 7 weeks
Gene sequencing SDHD/PGL1
DNA
TAT: 5 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
358
358
Hemangioma cerebellar
OMIM Phenotype: Panel: 1 Panel: 2 OMIM Gene/Locus: 608537
Complete sequencing of VHL gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
MLPA analysis of deletions / duplications in VHL gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Genetic instability
Volume, sample: 5-10 ml Blood-EDTA and tumor tissue
OMIM Gene/Locus: Panel: 1 Microsatellite instability: BAT25, BAT26, D5S346, D17S250, D2S123, NR21, NR22 and NR24
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Volume, sample: 5-10 ml Blood-EDTA; BONE MARROW
leiomatosis and renal cell cancer
Panel: 1 Complete sequencing of FH gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
5-10 ml Blood-EDTA; BONE MARROW
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing of NPM1 gene
DNA
TAT: 8-10 weeks
Conservation: 4ºC
Panel: 3 Sequencing of gene exon 12 NPM1
DNA
TAT: 3 weeks
Conservation: 4ºC
Complete sequencing of gene NRAS
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Analysis of mutation in gene GATA2 l359v
TAT: Conservation:
Analysis of exons 8, 11 and 17 of KIT gene (CD117), for treatment with Gleevec (Imatinib)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
5-10 ml Blood-EDTA
Complete sequencing of TERT gene
DNA
TAT: 9-12 weeks
Conservation: 4ºC
diseases and cancer
359
Complete sequencing of gene NSD1
DNA
TAT: 7 weeks
Panel: 9 MLPA analysis of large deletions in NSD1 gene
DNA
TAT: 3 weeks
Conservation: 4ºC
Conservation: 4ºC
DNA
Panel: 2
Mutation Analysis by sequencing of exons 14 and 20 of FLT3 gene, including ASP835 (FLT3 inhibitors)
DNA
malignant cutaneous melanoma type 1
DNA
Panel: 1 Complete sequencing of gene CDKN2A/p16
DNA
Panel: 1 Complete sequencing of CDK4 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 Sequencing of exon 2 of CDK4
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of MC1R gene
DNA
Panel: 1 Analysis of expression of tyrosinase, TYR gene
DNA
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
360
360
melanoma inhibitory ativity protein
OMIM Phenotype: Panel: 1 OMIM Gene/Locus: 601340
Analysis of peptide MIA expression
DNA
TAT: 3-4 weeks
Conservation: 4ºC
melanoma-astrocytoma syndrome
Panel: 1 Complete sequencing of gene CDKN2A/p16
DNA
TAT: 3-4 weeks
Conservation: 4ºC
myeloid metaplasia with myelofibrosis
DNA
TAT: 3-4 weeks
Conservation: 4ºC
intracardiac myxoma
DNA
TAT: 4-6 weeks
Conservation: 4ºC
multiple ndocrine neoplasia type 1 (MEN1)
Panel: 1 Complete sequencing of MEN1 gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of large gene deletions in MEN1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
multiple ndocrine neoplasia type 2a (MEN2)
Panel: 1 Mutations in exons 2, 10, 11, 13 to 16 RET gene
DNA
TAT: 3-4 weeks Panel: 2 Complete sequencing of RET gene
DNA
TAT: 7-9 weeks Panel: 3 Sequencing RET gene exons 10,11,13-16
DNA
TAT: 2 weeks
Panel: 4 Sequencing exons 10 and 11 of RET gene
DNA
TAT: 2 weeks
Panel: 5 Sequencing exons 13, 14, 15 and 16 of RET gene
DNA
TAT: 2 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
diseases and cancer
361
multiple ndocrine neoplasia type 4 (MEN4)
Panel: 1 Complete sequencing of gene CDKN2B/p27
DNA
TAT: 3-4 weeks
Conservation: 4ºC
neurofibromatosis type 1
Panel: 1 Complete sequencing of NF1 gene
DNA
TAT: 14 weeks
Conservation:
Panel: 2 Analysis deletions / duplications (First screening-P081)
DNA
TAT: 2 weeks
Conservation:
Panel: 3 Analysis deletions / duplications (Second screening-P082)
DNA
TAT: 2 weeks
Conservation:
Panel: 4 Analysis of large deletions in gene NF1 by MLPA
DNA
TAT: 3-4 weeks
Conservation:
4ºC
4ºC
4ºC
4ºC
neurofibromatosis type I like; Legius syndrome
Panel: 1 Gene sequencing SPRED1
DNA
TAT: Please inquire
Conservation: 4ºC
neurofibromatosis type 2
Panel: 1 Complete sequencing of NF2 gene
DNA
TAT: 6 weeks
Conservation: 4ºC
Panel: 2 Analysis of large deletions in NF2 gene by MLPA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
meningioma
Panel: 1 Complete sequencing of gene MN1
DNA
TAT: 4 weeks
Conservation: 4ºC
glioma susceptibility type 2
Complete sequencing of PTEN gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
362
362
chondrosarcoma; exostoses multiple
Panel: 1 Complete sequencing of gene EXT1
DNA
TAT: 6-8 weeks
Complete sequencing of gene EXT2
DNA
TAT: 6-8 weeks
Analysis by MLPA deletion / duplication EXT1 gene
DNA
TAT: 2 weeks
Analysis by MLPA deletion / duplication EXT2 gene
DNA
TAT: 2 weeks
Complete sequencing of genes EXT 1 and EXT 2
DNA
TAT: 7 weeks
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
Conservation: 4ºC
osteosarcoma
DNA
TAT: 3-4 weeks
Conservation: 4ºC
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Complete sequencing of gene CHEK2
DNA
familial paraganglioma type 1
Panel: 1 Complete sequencing of SDHD gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of SDHC gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 1 Complete sequencing of SDHB gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
diseases and cancer
363
familial adenomatous polyposis type 1(FAP)
Panel: 1 Panel: 2 Panel: 3 Panel: 4 Panel: 5 Sequencing of exon 15 region MCR APC gene
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Complete sequencing of APC gene
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Analysis of large deletions by MLPA APC gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing of APC gene exon 15 (90% of mutations)
DNA
TAT: 7 weeks
Conservation: 4ºC
Screening: fragment of exon 15 of APC gene and containing I1307K E1317Q
DNA
TAT: 2 weeks
Conservation: 4ºC
juvenile polyposis
Panel: 1 Complete sequencing of gene BMPR1A
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Gene Sequencing SMAD4 completra
DNA
TAT: 6 weeks
Conservation: 4ºC
MLPA Analysis by deletions of genes and SMAD4 BMPR1A
DNA
TAT: 3-4 weeks
Conservation: 4ºC
familial adenomatous polyposis type 2; multiple polyposis
Panel: 1 Frequent mutations Y165C and G382D (75-80%) in MUTYH (MYH)
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Panel: 2 Complete sequencing of gene MUTYH (MYH)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
retinoblastoma
Panel: 1 Complete sequencing of RB1 gene
DNA
TAT: Please inquire
Conservation: 4ºC
Panel: 2 Analysis of deletions / duplications in RB1 by MLPA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 3 Complete sequencing and MLPA RB1 gene
DNA
TAT: 9-12 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
364
364
Bannayan-Riley-Myhre Ruvalcaba-Smith-Zonana syndrome
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Ewing sarcoma; desmoplastic
25 mg, 5 sections of 10 micron Tumor tissue / paraffin
small round cell
Panel: 1 Analysis EWS/WT1 translocation - t(11; 22)(p13; q12)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 2 Analysis EWS/FLI1-translocation t(11; 22)(q24, q12)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 3 Translocation Analysis of EWS / ERG-t(21; 22)(q22, q12)
DNA
TAT: 2 weeks
Conservation: 4ºC
Panel: 4 Analysis translocation EWS / CHN (NR4A3)-t(7; 22)(p22; q12)
DNA
TAT: 2 weeks
Conservation: 4ºC
myxoid extraskeletal chondrosarcoma 25 mg, 5 sections of 10 micron Tumor tissue / paraffin
Panel: 1 Translocation Analysis EWS / CHN (NR4A3)-t(9; 22)(q22, q12)
DNA
TAT: 2 weeks
Conservation: 4ºC
alveolar rhabdomyosarcoma type 2
Panel: 1 Panel: 2 25 mg, 5 sections of 10 micron Tumor tissue / paraffin
Analysis PAX3/FKHR-translocation t(2; 13)(q35, q14)
DNA
TAT: 2 weeks
Conservation: 4ºC
Analysis PAX7/FKHR-translocation t(1; 13)(p36; q14)
DNA
TAT: 2 weeks
Conservation: 4ºC
Birt-Hogg-Dubé syndrome
5-10 ml Blood-EDTA
Panel: 1 Complete sequencing of gene FLCN (BHD)
DNA
TAT: 6-8 weeks
Conservation: 4ºC
Panel: 2 Screening c.1285 ofC / c. 1285DupC in gene FLCN
DNA
TAT: 2 weeks
Conservation: 4ºC
Digeorge syndrome. VCFS
5-10 ml Blood-EDTA
Panel: 1 Analysis of deletion of 22q11.2 region (TBX; Catch22) by MLPA
DNA
TAT: 3-4 weeks
Conservation: 4ºC
diseases and cancer
365
hyperparathyroidism type 2, familial primary with multiple ossifying jaw
Panel: 1 Complete sequencing of gene CDC73 (HRPT2)
DNA
TAT: 8 weeks
Conservation: 4ºC
Li-Fraumeni syndrome type 1
DNA
TAT: 3-4 weeks
Conservation: 4ºC
DNA
TAT: 2-3 weeks
Conservation: 4ºC
Li-Fraumeni syndrome type 2
Panel: 1 Complete sequencing of gene CHEK2
DNA
Peutz-Jeghers syndrome
Panel: 1 Complete sequencing of STK11 (LKB1)
DNA
Von Hippel-Lindau
Panel: 1 Complete sequencing of VHL gene
DNA
Panel: 2 MLPA analysis of deletions / duplications in VHL gene
DNA
basal cell nevus syndrome
Panel: 1 Complete sequencing of gene PTCH1
DNA
TAT: 6-8 weeks
Conservation: 4ºC
autoimmune lymphoproliferative syndrome type 1
OMIM Gene/Locus: 134638;
Panel: 1 Complete sequencing of gene FAS (TNFRSF6)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Complete sequencing of gene FASLG (TNFSF6)
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Human Genetics
Human Genetics
diseases and cancer
Human Genetics
366
366
autoimmune lymphoproliferative syndrome type 2
Panel: 1 Complete sequencing of gene CASP10
DNA
TAT: 4-6 weeks
Conservation: 4ºC
lymphoproliferative syndrome X-linked; Duncan disease
Panel: 1 Complete sequencing of gene SH2D1A
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Panel: 2 MLPA analysis of large gene deletions SH2D1A
DNA
TAT: 3-4 weeks
Conservation: 4ºC
lymphoproliferative syndrome X-linked type 2
Panel: 1 Complete sequencing of gene XIAP (XLP2)
DNA
TAT: 4-6 weeks
Conservation: 4ºC
somatotropinoma; pituitary ademoma
DNA
TAT: 4-6 weeks
Conservation: 4ºC
wilms tumor tipe 1; nephroblastoma
Complete sequencing of WT1 gene
DNA
TAT: 4-6 weeks
Conservation: 4ºC
Analysis of large deletions by MLPA WT1 gene
DNA
TAT: 3-4 weeks
Conservation: 4ºC
Human Genetics
Acquired Cytogenetics
karyotype
Panel: 6 Panel: 7 Panel: 8 Sample: Heparin Bone Marrow
TAT: 10-15 days
Conservation: Room temperature
Sample: Heparin Peripheral blood
TAT: 10-15 days
Conservation: 4°C
Sample: Solid tumors fresh tissues
TAT: 10-15 days
Conservation: 4°C
Constitutional Cytogenetics
karyotype
Panel: 1 Panel: 2 Panel: 3 Panel: 4 Panel: 5 Sample: Heparin Peripheral blood
TAT: 10-15 days
Conservation:
Sample: Skin fibroblasts (fresh biopsy)
TAT: 10-15 days
Conservation:
Sample: Chorionic villi
TAT: 10-15 days
Conservation:
Sample: Amniotic fluid
TAT: 10-15 days
Conservation:
Sample: Tissues from abortion
TAT: 10-15 days
Conservation:
Cytogenetics
Room temperature
4°C
4°C
4°C
4°C
Volume, sample: 5 ml heparin blood
Algille syndrome
OMIM Gene/Locus: #118450
FISH
TAT: 10-15 days
Angelman syndrome
FISH
TAT: 10-15 days
CHARGE syndrome
FISH
TAT: 10-15 days
Cri-du-Chat syndrome
FISH
TAT: 10-15 days
Human Genetics
367
Human Genetics
Cytogenetics
Human Genetics
368
368
Digeorge II Syndrome
OMIM Gene/Locus: %601362
FISH
TAT: 10-15 days
Digeorge II Syndrome
FISH
TAT: 10-15 days
22q13,3 Deletion Syndrome
FISH
TAT: 10-15 days
Kallmann Syndrome
FISH
TAT: 10-15 days
Langer-Giedion Syndrome
FISH
TAT: 10-15 days
Miller-Dieker
FISH
TAT: 10-15 days
Monosomy 1p36
FISH
TAT: 10-15 days
Neurofibromatosis type1
FISH
TAT: 10-15 days
Cytogenetics
Prader-Willi Syndrome
FISH
TAT: 10-15 days
Rubinstein-Taybi Syndrome
FISH
TAT: 10-15 days
Sathre-Chotzen Syndrome
FISH
TAT: 10-15 days
Sotos Syndrome
FISH
TAT: 10-15 days
Steroid Sulphatase Deficiency
FISH
TAT: 10-15 days
William-Beuren Syndrome
FISH
TAT: 10-15 days
SHOX Deletion
OMIM Gene/Locus: *312865
FISH
TAT: 10-15 days
Smith-Magenis
FISH
TAT: 10-15 days
369
Human Genetics
Human Genetics
Human Genetics
Cytogenetics
Human Genetics
370
370
SRY Deletion
FISH
TAT: 10-15 days
Wolf-Hirschhorn Syndrome
FISH
TAT: 10-15 days
XIST Deletion
FISH
TAT: 10-15 days
Subtelomeric deletions
OMIM Gene/Locus:
FISH
TAT: 10-15 days
Oncohaematology/
Cytogenetics
13q14,3 Deletion
CLL-MM
TAT: 10-15 days
Volume, sample: 5 ml heparin bone marrow, heparin blood
t(8;21)
OMIM Gene/Locus: *133435-*151385
AML
TAT: 10-15 days
ATM Deletion
LLC
TAT: 10-15 days
Oncohaematology/
Cytogenetics
Bcl6 breakapart
Lymphoma
TAT: 10-15 days
t(9;22)BCR/ABL
CML, All,AML
TAT: 10-15 days
inv(16)
AML
TAT: 10-15 days
cMyc breakapart
B-ALL
TAT: 10-15 days
Deletion 5q
5q- Syndrome
TAT: 10-15 days
Deletion 7q
OMIM Gene/Locus:
AML
TAT: 10-15 days
CKS1B-CDKN2C(P18) Amplif.-Delet.
MM
TAT: 10-15 days
20q deletion
OMIM Gene/Locus:
Policytemia Vera, MPD, MDS, AML
TAT: 10-15 days
371
Human Genetics
Human Genetics
Human Genetics
Oncohaematology/
Cytogenetics
Human Genetics
372
372
E2A breakapart
B-ALL
TAT: 10-15 days
EVI1 breakapart
myeloid malignancies
TAT: 10-15 days
FIP1L1/CHIC2/PDGFRA
OMIM Gene/Locus: *607686-*604332-*173490
ALL, CLL
TAT: 10-15 days
IGH breakapart
ALL, CLL
TAT: 10-15 days
t(14;18)
Follicular Lymphoma
TAT: 10-15 days
t(11;14)
L, MM
TAT: 10-15 days
t(6;14)
MM
TAT: 10-15 days
t(4;14)
MM
TAT: 10-15 days
372
Oncohaematology/
Cytogenetics
t(14,16)
MM
TAT: 10-15 days
t(14;20)
MM
TAT: 10-15 days
IGK breakapart
Lymphoma
TAT: 10-15 days
MLL breakapart
OMIM Gene/Locus: +159555
B-ALL
TAT: 10-15 days
IGL breakapart
Lymphoma
TAT: 10-15 days
MYB Deletion
B-CLL
TAT: 10-15 days
P16 Deletion
T-CLL
TAT: 10-15 days
P53 Deletion
B-CLL, MM
TAT: 10-15 days
373
Human Genetics
Human Genetics
Human Genetics
Oncohaematology/
Cytogenetics
Human Genetics
374
374
PDGFRB breakapart
CML
TAT: 10-15 days
t(15;17)
AML, Promyelocytic L
TAT: 10-15 days
TCL1 breakapart
T-ALL
TAT: 10-15 days
TCRAD breakapart
T-ALL
TAT: 10-15 days
TCRB breakapart
ALL, AML
TAT: 10-15 days
t(12;21)
ALL
TAT: 10-15 days
TLX1 breakapart
T-ALL
TAT: 10-15 days
TLX3
T-ALL
TAT: 10-15 days
374
Oncohaematology/
Molecular Genetics
t(15;17) PML-RARA
Sample: Blood EDTA
TAT: 5-10 days
t(15;17) PML-RARA Q-PCR
Sample: Blood EDTA
TAT: 5-10 days
t(8;21) AML1-ETO, RUNX1-RUNX1T1
Sample: Blood EDTA
TAT: 5-10 days
t(8;21) AML1-ETO, RUNX1-RUNX1T1 Q-PCR
Sample: Blood EDTA
TAT: 5-10 days
inv16 ou t(16;16) CBFB-MYH11
Sample: Blood EDTA
TAT: 5-10 days
inv16 ou t(16;16) CBFB-MYH11 Q-PCR
Sample: Blood EDTA
TAT: 5-10 days
Mutations NPM1
Sample: Blood EDTA
TAT: 5-10 days
Mutations NPM1 Q-PCR
Sample: Blood EDTA
TAT: 5-10 days
Mutations NPM1, type of mutation
Sample: Blood EDTA
TAT: 5-10 days
Mutations CEBPA
Sample: Blood EDTA
TAT: 5-10 days
375
Human Genetics
Human Genetics
Human Genetics
Oncohaematology/
Molecular Genetics
Human Genetics
376
376
Mutations FLT3-ITD
Sample: Blood EDTA
TAT: 5-10 days
Mutations FLT3-Asp835
Sample: Blood EDTA
TAT: 5-10 days
t(6;9) DEK-CAN
Sample: Blood EDTA
TAT: 5-10 days
Mutation JAK2V617F
Sample: Blood EDTA
TAT: 5-10 days
mutation jak2 v617f q-pcr - acute myeloid leukemia
Sample: Blood EDTA
TAT: 5-10 days
mutation jak2 v617f q-pcr -chronic myeloid leukemia
Sample: Blood EDTA
TAT: 5-10 days
Mutations DNMT3A
Sample: Blood EDTA
TAT: 5-10 days
Mutations IDH1
Sample: Blood EDTA
TAT: 5-10 days
Mutations IDH2
Sample: Blood EDTA
TAT: 5-10 days
Mutations CKIT EXON 8
Sample: Blood EDTA
TAT: 5-10 days
376
Oncohaematology/
Molecular Genetics
Mutations CKIT EXON 17
Sample: Blood EDTA
TAT: 5-10 days
t(9;22) BCR-ABL
Sample: PAXGEN / BLOOD EDTA
TAT: 5-10 days
t(9;22) BCR-ABL Q-PCR - acute lymphoblastic leukemia
TAT: 5-10 days
t(9;22) BCR-ABL Q-PCR - chronic myeloid leukemia
TAT: 5-10 days
t(9;22) BCR-ABL, type de mutation - acute lymphoblastic leukemia
TAT: 5-10 days
t(9;22) BCR-ABL, type de mutation - chronic myeloid leukemia
TAT: 5-10 days
Mutations JAK2 EXON12
Sample: Blood EDTA
TAT: 5-10 days
Mutations MPL
Sample: Blood EDTA
TAT: 5-10 days
Mutations FIP1L1-PDGFRA
Sample: Blood EDTA
TAT: 5-10 days
377
Human Genetics
Human Genetics
Human Genetics
Oncohaematology/
Molecular Genetics
Human Genetics
378
378
T(5;12) TEL-PDGFRB
Sample: Blood EDTA
TAT: 5-10 days
Mutation c-KIT D816 - myeloproliferative neoplasms
Sample: Blood EDTA
TAT: 5-10 days
Mutation c-KIT D816 - acute myeloid leukemia
Sample: Blood EDTA
TAT: 5-10 days
t(1;19) E2A-PBX
Sample: Blood EDTA
TAT: 5-10 days
t(1;19) E2A-PBX Q-PCR
Sample: Blood EDTA
TAT: 5-10 days
t(12 ;21) TEL-AML1
Sample: Blood EDTA
TAT: 5-10 days
t(12 ;21) TEL-AML1 Q-PCR
Sample: Blood EDTA
TAT: 5-10 days
t(4;11) MLL-AF4 - acute myeloid leukemia
Sample: Blood EDTA
TAT: 5-10 days
t(4;11) MLL-AF4 - acute lymphoblastic leukemia
Sample: Blood EDTA
TAT: 5-10 days
378
Oncohaematology/
Molecular Genetics
clonality of cells B (IGH) - acute lymphoblastic leukemia
Sample: Blood EDTA
TAT: 5-10 days
clonality of cells B (IGH) - non Hodgkins lymphomes
Sample: Blood EDTA
TAT: 5-10 days
rearrangement IGH (FR1, FR2, FR3, LEADER) - acute lymphoblastic leukemia
Sample: Blood EDTA
TAT: 5-10 days
rearrangement IGH (FR1, FR2, FR3, LEADER) - non Hodgkins lymphomes
Sample: Blood EDTA
TAT: 5-10 days
clonality of cells T (TCRab) - acute lymphoblastic leukemia
Sample: Blood EDTA
TAT: 5-10 days
clonality of cells T (TCRab) - non Hodgkins lymphomes
Sample: Blood EDTA
TAT: 5-10 days
clonality of cells T (TCRgb) - acute lymphoblastic leukemia
Sample: Blood EDTA
TAT: 5-10 days
clonality of cells T (TCRgb) - non Hodgkins lymphomes
Sample: Blood EDTA
TAT: 5-10 days
rearrangement TCR (Beta, Gamma)
Sample: Blood EDTA
TAT: 5-10 days
LLA-B residual disease
Sample: Blood EDTA
TAT: 5-10 days
379
Human Genetics
Human Genetics
Human Genetics
Oncohaematology/
Molecular Genetics
Human Genetics
380
380
LLA-T residual disease
Sample: Blood EDTA
TAT: 5-10 days
heavy chain hypermutations (VH-LLC)
Sample: Blood EDTA
TAT: 5-10 days
Mutations P53
Sample: Blood EDTA
TAT: 5-10 days
t(14;18) Bcl2 (MBR and mcr)
Sample: Blood EDTA
TAT: 5-10 days
t(11;14) Bcl1
Sample: Blood EDTA
TAT: 5-10 days
380
Molecular biology:
For all tests performed using DNA, please use an EDTA tube (blood or bone marrow).
For all tests using RNA, it is imperative to use a PAX RNA tube with either blood or
bone marrow samples. In case of doubt, with PAX RNA tube, send also 1 or 2 EDTA
tubes. All tubes (PAX gene or EDTA) should be kept at room temperature or at 4°C
(do not freeze). Please use different tubes for bone marrow and blood samples in
order to insure the quality of the extracted material.
In case minimal residual disease for acute lymphoblastic leukemia is requested
for known translocation (e.g. t(9;22), t(1;19) etc.), please indicate the type of
rearrangement at diagnosis.
In case minimal residual disease for acute lymphoblastic leukemia without
rearrangement is requested, then we also require a DNA sample from the patient’s
diagnosis. If our laboratory has not received material at diagnosis for analysis, the
DNA sample can be extracted from archive material (for example bone marrow
smears). This enables us to find the specific V-D-J rearrangement of immunoglobulin
heavy chain or T cell receptor genes at diagnosis and follow the residual disease based
on this specific rearrangement. For more details please contact us
FISH: heparinated or EDTA blood (10 mL) or bone marrow (5 mL) samples.
Caryotype: heparinated blood (5 mL) or bone marrow (2.5 mL).
Flow cytometry
It is imperative to use EDTA anticoagulated blood or bone marrow using
Transfix® tubes. Store between 4 and 8°C.
2. Test list
Molecular Biology
t(15;17) PML-RARA rearrangement
t(15;17) PML-RARA Q-PCR
t(8;21) AML1-ETO, RUNX1-RUNX1T1 rearrangement
t(8;21) AML1-ETO, RUNX1-RUNX1T1 Q-PCR
inv16 ou t(16;16) CBFB-MYH11 rearrangement
inv16 ou t(16;16) CBFB-MYH11 Q-PCR
NPM1 Mutations
NPM1 Mutations Q-PCR
NPM1, type of mutation
CEBPA Mutations
FLT3-ITD Mutation
FLT3-Asp835 Mutation
381
Onco-Haematology
Onco-Haematology
Onco-Haematology
Onco-Haematology
382
382
t(6;9) DEK-CAN rearrangement
JAK2V617F Mutation
JAK2 V617F Q-PCR Mutation
DNMT3A Mutations
IDH1 Mutations
IDH2 Mutations
CKIT EXON 8 Mutations
CKIT EXON 17 Mutations
t(9;22) BCR-ABL RT-PCR
t(9;22) BCR-ABL Q-PCR
t(9;22) BCR-ABL Mutations-resistance to therapy
JAK2 EXON12 Mutations
MPL Mutations
FIP1L1-PDGFRA rearrangement
t(5;12) TEL-PDGFRB rearrangement
c-KIT D816 Mutation
t(1;19) E2A-PBX rearrangement
t(1;19) E2A-PBX Q-PCR
t(12 ;21) TEL-AML1 rearrangement
t(12 ;21) TEL-AML1 Q-PCR
t(4;11) MLL-AF4 rearrangement
B lymphocyte clonality
T cell clonality (receptor alpha/beta and gamma/delta)
IGH rearrangement
B-cell Acute lymphoblastic leukemia residual disease
T-cell Acute lymphoblastic leukemia residual disease
IGVH Hypermutations for Chronic lymphocytic leukemia
TP53 Mutations
t(14;18) Bcl2 (MBR and mcr) rearrangement
t(11;14) Bcl1 rearrangement
Cytogenetics
Caryotype peripheral blood
Caryotype bone marrow
13q deletion
Trisomy 12
11q (ATM) deletion
17p (p53) deletion
t(11:14) rearrangement
t(14:18) rearrangement
5q31 deletion
Monosomy 5
7q31 deletion
Monosomy 7
20q deletion
Flow cytometry (blood, bone marrow or aspirate)
Lymphocytosis
Leukocytosis, monocytosis
B or T cell lymphoma (diagnosis and minimal residual disease)
Multiple myeloma
Acute leukemia (myeloid, lymphoblastic diagnosis and minimal residual disease)
T cell clonality (receptor TCRab)
Paroxysmal nocturnal hemoglobinuria
383
Onco-Haematology
Onco-Haematology
FISH tests
FISH tests
384
384
In this section are listed the FISH tests, which are grouped into four categories
(general, centromere probes, solid tumors and haematological disorders). The number
to the right indicates the number of probes per test.
1.General
MultiVysion PGT Multi-color (13q14, cep18, 21q22, cepX, cepY) (AneuVysion)
5
MultiVysion PB Multi-color (13q14, cep16, cep18, 21q22, 22q11) (AneuVysion)
5
1p36 Microdeletion Syndrome [ p58 (1p36) /TelVysion 1p / 1q25 ]
3
Wolf-Hirschhorn Region [ WHS /CEP 4 ]
2
Cri-du-Chat Region [ D5S23, D5S721 / EGR-1 ]
2
Cri-du-Chat Region [ D5S23, D5S721 ]
1
Williams Region [ ELN / D7S486, D7S522 ]
2
Prader-Willi/Angelman Region (D15S11) [ D15S11 Sp./CEP 15 (D15Z1) ]
2
Prader-Willi/Angelman Region (GABRB3)[ GABRB3 Sp./CEP 15 (D15Z1) ]
2
Prader-Willi/Angelman Region (D15S10) [ D15S10 Sp./CEP15 (D15Z1) / PML Sp.]
2
Prader-Willi/Angelman Region (SNRPN) [ SNRPN Sp./CEP 15 (D15Z1) / PML Sp.]
2
Prader-Willi/Angelman Region Probe [D15S10 /CEP 15 (D15Z1)/PML ]
3
Prader-Willi/Angelman Region Probe [SNRPN /CEP 15 D15Z1)/PML ]
3
Miller-Dieker/Lissencephaly Region [ LIS1 ./ RARA ]
2
Smith-Magenis Region [ SMS / RARA ]
2
D22S75 (N25 region)/ ARSA
2
DiGeorge Region (TUPLE 1) [ TUPLE 1 / ARSA ]
2
DiGeorge Region [ TUPLE 1(HIRA) /TelVysion 22q
2
Steroid Sulfatase Region [ STS /CEP X ]
2
Kallmann Region [ KAL /CEP X ]
2
MAPT
1
Xq13.2 (XIST)
1
SRY Region [ SRY (Yp11.3) ]
1
SRY Region [ SRY (Yp11.3) /CEP X ]
2
Sotos Syndrome [ NSD1 (5q35) ]
1
2.Centromere probes
CEP 1
1
CEP 2
1
CEP 3
1
CEP 4
1
CEP 5
1
CEP 6
1
FISH tests
CEP 7
1
CEP 8
1
CEP 9
1
CEP 10
1
CEP 11
1
CEP 12
1
CEP 13
1
CEP 14
1
CEP 15
1
CEP 16
1
CEP 17
1
CEP 18
1
CEP 19
1
CEP 20
1
CEP X
1
CEP Y
1
3.Solid tumors
Breast Cancer
PathVysion® HER-2 DNA Probe Kit
2
Breast Cancer
LSI TOP2A SpectrumOrang/HER-2 Sp.Green
CEP/ 17 Sp.Aqua, CE
3
Breast Cancer
LSI® EGFR SpectrumOrange™/CEP® 7 SpectrumGreen™
2
Breast Cancer
Vysis PTEN/CEP 10 FISH Probe Kit CE (früher: 7J7401)
2
Cervical Cancer
Vyx PV Cervical FISH Probe
3
Esophageal Cancer
Vysis Esophageal FISH Probe Set
4
Melanoma
LSI® RREB1/ LSI® MYB/ LSI® CCND1/ CEP® 6 Probe Set
4
Bladder cancer
Vysis TP53/ CEP 17
2
Bladder cancer
UroVysion Bladder Cancer Recurrence Kit
4
Bladder cancer
Vysis CDKN2A/CEP9 FISH Probe Kit
2
Lung cancer
LSI D5S721, D5S23 (5p15.2), SpectrumGreen
1
Lung cancer
LSI EGFR (7p12) SpectrumRed
1
Lung cancer
LSI C-MYC (8q24.12-24.13) SpectrumGold
1
Lung cancer
CEP 6 (D6Z1) SpectrumAqua
1
Prostate cancer
LSI LPL 8p22 SpectrumOrange
1
Prostate cancer
CEP 8 SpectrumAqua
1
FISH tests
385
FISH tests
FISH tests
386
386
Prostate cancer
LSI C-MYC 8Q24.12-24.13 SpectrumGreen
1
Prostate cancer
LSI® Androgen Receptor Gene (Xq12)
SpectrumOrange™
1
Prostate cancer
LSI® C-MYC (8q24.12-q24.13) SpectrumOrange™
1
Sarcomas
Vysis DDIT3 Break Apart FISH Probe Kit
(LSI CHOP (12q13)), CE
2
Sarcomas
Vysis FUS Break Apart FISH Probe Kit
(LSI FUS (16p11)), CE
2
Sarcomas
Vysis EWSR1 Break Apart FISH Probe Kit
(LSI EWSR1 (22q12)), CE
2
Sarcomas
Vysis FOXO1 Break Apart FISH Probe Kit
(LSI FKHR (13q14)), CE
2
Sarcomas
Vysis SS18 Break Apart FISH Probe Kit
(LSI SYT (18q11.2)), CE
2
Sarcomas
LSI® N-MYC (2p24.1) SpectrumGreen™/CEP® 2
SpectrumOrange™
2
Sarcomas
Vysis LSI MDM2 SpectrumOrange Probe
1
Gliomas
Vysis TP53 / CEP 17 FISH Probe Kit
2
Gliomas
Vysis 1p36/1q25 and 19q13/19p13 FISH Probe Kit
4
Gliomas
LSI EGFR SpectrumOrange/CEP® 7 SpectrumGreen
2
Gliomas
Vysis CDKN2A/CEP9 FISH Probe Kit
2
Gliomas
Vysis PTEN /CEP 10 FISH Probe Kit CE
2
Other Cancers
LSI® 13 (RB1) (13q14) SpectrumOrange™ CE
1
Other Cancers
LSI® 22q (BCR) SpectrumGreen™
1
Other Cancers
LSI® N-MYC (2p24.1) SpectrumGreen/CEP 2
SpectrumOrange
2
FISH tests
4.Haematological disorders
BCR/ABL1, ABL1 ampl.
t(9;22)(q34;q11.2)
2
PDGFRA
4q12
1
PDGFRB
5q33
1
inv(3)
RPN1/EVI1
2
MLL rearrangements
11q23 (Break-Apart)
2
ETO/AML1
t(8;21)(q22;q22)-
2
BCR/ABL1
t(9;22)(q34;q11.2)
2
PML/RARA
t(15;17)(q22;q21)-
2
CBFB
inv(16) & variants- (Break-Apart)
2
TEL/RUNX1, RUNX1 ampl.
t(12;21)(p12;q22)
2
E2A rearrangement
19p13.3 (Break-Apart)
2
TCR alpha/delta
14q11.2
2
CLL Kit
MYB, ATM, p53, cep12, 13q14, 13q34
6
confirm if p53 del
p53, cep17
2
CCND1/IGH
t(11;14)(q13;q34)
2
Rb1/LAMP1
-13/13q deletion
2
c-MYC/IGH
t(8;14)(q24.1;q32)
2
BCL2/IGH
t(14;18)(q32;q21)
2
BCL6
ABR break-apart
2
IGH/MALT1
t(14;18)(q32;q21)
2
TCL1
14q32
2
c-MYC
C-MYC (8q24.12-q24.13)/CEP 8
2
ALK
2p23 rearrangement
2
-5 /5q deletion
D5S23, D5S721/EGR1
2
-7 / 7q deletion
D7S486/cen7
2
9p deletion
p16, cep9
2
-13/13q deletion
D13S319/LAMP1
2
17p / p53 deletion
p53, cep17
2
20q deletion
D20S108
2
FISH tests
387
Index
Index
388
388
1,25 (Oh)2 D3
see
1,25 (Oh)2 Vitamin D3
see
1,25 Dihydroxicalciferol
see
1,25 Dihydroxivitamin D
see
11 Df
see
11-desoxycortisol
11-Desoxycortisol
see
11-Doca
see
11-Doca
see
17-Alpha- Hydroxiprogesterone
see
17-Beta-Oestradiol
see
17-Hydroxi-Corticosteroids (Urine 24H)
see
17-Hydroxi-Delta-5-Pregnenolone
see
17-Hydroxi-Pregnenolone
see
17-Hydroxi-Progesterone
see
17-Hydroxisteroids (Urine 24H)
see
17-Ketosteroids (Urine 24H)
see
17-Oh-P
see
17-Oh-Pregnenolone
see
17-OH-Pregnenolone
17-Oh-Progesterone
see
17-OH-progesterone
18 -Hydroxicorticosterone
see
1-Methylimidazole-4-Acetic Acid
see
21 Hydroxilase Antibodies
see
21-Deoxy F
see
21-Deoxycortisol
see
21-Desoxycortisol
21-Df
see
25 Oh D3
see
25-Hydroxi-Vitamin D3
see
25-OH Vitamin D
3-Alpha-Glucuronide-Androstendiol
see
see
5 Alpha Dihydrotestosterone
see
5-Alpha Dht
see
5-Alpha, 3-Alpha-Glucuronide-Androstendiol
see
see
see
5-Hiaa
see
11-desoxycortisol
11-desoxycortisol
Desoxycorticosterone
17-OH-progesterone
Salivary estradiol
17-OH-Pregnenolone
17-OH-Pregnenolone
17-OH-progesterone
17-OH-progesterone
17-OH-Pregnenolone
17-OH-progesterone
Anti 21-hydroxylase ab
21-Desoxycortisol
21-Desoxycortisol
21-Desoxycortisol
25-OH Vitamin D
25-OH Vitamin D
Dihydrotestosterone
Dihydrotestosterone
18
18
18
18
18
18
18
18
18
18
18
18
19
125
18
18
18
18
19
18
18
18
19
18
18
19
19
19
19
18
28
19
19
19
19
19
19
19
19
19
27
67
67
27
19
27
19
19
5-Hiaa/Hiaa-5
see Serotonin (Urine 24h)
126
5-Hidroxitriptamine
see Serotonin (whole blood)
126
5-Ht
126
5-Hydroxindolacetic Acid
see 5-HIAA (5-hydroxyindolacetate)
19
5-Hydroxyindolacetic Acid
126
5-Oht
126
A, Niger
see Aspergillus (6 species)
41
A. Fumigatus
41
A. Nidulans
41
A. Terreus
41
A1At
see Alpha-1-Antitrypsin
24
A2M
see Alpha-2 macroglobulin
24
Aat
see Alpha-1-Antitrypsin
24
Aat Genotipyng
see Alpha-1-Antitrypsin, genotype
24
Abachi wood dust
152
Abalone
142
Abo Group Typing
see Blood Typing
45
Abo Group Typing
see Blood typing ABO, Rhesus typing, irregular allo Ab
45
Abo Group Typing
see Blood typing newborn ABO, Rhesus typins, direct Coombs
45
Acacia mimosa (golden wattle)
155
152
Ace
see Angioconvertase
28
Acetaminophene
see Paracetamol
109
Acetaminophene
see Phenacetin (Paracetamol)
111
Acetilsalicylic Acid
see Salicylates
124
Acetoacetic Acid
see Ketone bodies
91
Acetone
see Ketone bodies
91
Acetycholin Esterase
see Acetycholinesterase
20
Acetycholin Esterase
see Cholinesterase
54
Acetycholinesterase
20
Acetylcholin Receptor Antibodies
see Anti-acetylcholin receptor Ab
28
Ache
20
Ache
see Cholinesterase
54
Acid Alpha-1-Glycoprotein
see Orosomucoid
106
Acid Folic see Folate
73
Acid Folic Erythrocyte see Erythrocyte folate
70
Acid Guanidinoacetic Structure
see Guanidinoacetic acid structure
79
Acid Hippuric
see Hippuric acid
85
Acid Homogentisic
see Homogentisic acid
86
Acid Homovanilic
see HVA (homovanillic acid)
86
Acid Hyaluronic
see Hyaluronic acid
86
Acid steatocrit
20
Acinus Cell Abs
see Anti-exocrine pancreas
31
389
Index
Index
Index
Index
390
390
Acl (Igg, Igm)
see Anti-cardiolipin Ab (IgG, IgM)
29
Acrosin
20
ACTH
141
ACTH
20
Actine Antibodies
see Anti-actine
28
Actitest
see FibroTest / ActiTest
72
Activated Parcial Thromboplastine Time
see PTT
120
Activated Proteina C Resistance
see Resistance to activated protein C (aPCR)122
Activity Anti Xa
see Anti-Xa activity
39
Activity Galactocerebrosidase
see Galactocerebrosidase
76
Activity Galactokinase
see Galactokinase
76
20
Acute Hepatitis A (IgG, IgM) (Anti-HAV)
20
Acute Hepatitis B
20
Acylcarnitine
see Carnitine
51
Acylcarnitine
21
Ada (Puncture Fluid)
see Adenosine deaminase (puncture fluid) 21
Adam TS 13
21
Adenovirus
21
Adenovirus (PCR)
21
Adrenaline
see Catecholamines
51
Adrenocorticotrophin Hormone
see ACTH
20
AFP (neonatal screening)
21
AFP (puncture fluid)
22
AFP (tumor marker)
22
Ag Cryptococcus Serum
see Cryptococcus (serum Ag)
63
Ag. Aspergillus (Galactomannane)
22
Agglutination Candida Albicans
see Candida albicans (HAI)
50
Al
see Aluminium
25
Ala Urine
see Porphyrin profile (urine 24h)
114
Alanine Transaminase
see ALAT (GPT)
22
ALAT (GPT)
22
Albumin
22
Albumin (CSF)
22
Albumin (puncture fluid)
22
Albumin (urine 24h)
22
Albumin (urine)
23
Aldolase
23
Aldosterone
23
Aldosterone (urine)
23
Alkalase
152
Alkaline Phosphatase
23
Alkaline Phosphatase Bone
see Bone alkaline phosphatase
46
Alkaline Phosphatases Isoenzymes see Electrophoresis of alkaline Electrophoresis
phosphatase
68
Allescheria Boydii
41
Allspice
142
Almond
142
Almond Igg
see Anti-Almond, IgG
148
Alp
see Alkaline Phosphatase
23
Alpha Hbdh
see Alpha-HBDH (hydroxybutyric dehydrogenase)
24
Alpha Interferon Neutralizing Abs
see Alpha-Interferone abs
24
Alpha-1-Acid-Glycoprotein
see Orosomucoid
106
Alpha-1-antitrypsin
24
Alpha-1-antitrypsin, genotype
24
Alpha-1-Antitrypsin, S And Z Variant Genotipyng see Alpha-1-Antitrypsin, genotype
24
Alpha-1-Seromucoid
see Orosomucoid
106
Alpha-2 macroglobulin
24
Alpha-amylase
152
Alpha-Fetoprotein (Puncture Fluid)
see AFP (puncture fluid)
22
Alpha-Fetoprotein (Neonatal Screening)
see AFP (neonatal screening)
21
Alpha-Fetoprotein (Tumor Marker)
see AFP (tumor marker)
22
Alpha-fetoprotein (tumor marker)
24
Alpha-Galactosidase
24
Alpha-HBDH (hydroxybutyric dehydrogenase)
24
Alpha-Interferone abs
24
Alpha-lactalbumin
142
Alpha-Lactoalbumin Igg
see Anti-Alpha-lactalbumin, IgG
148
Alpha-tocopherol
24
Alprazolam
24
157
Aluminium
25
Aluminium (urine)
25
Ama
see Anti-mitochondria Ab
33
Ama M2
see Anti-mitochondria subtype M2
34
Amantadin
25
Amaranth
150
Amaril Virus Serology
see Yellow fever neutralizing Ab
137
American beech
155
Amh
see Antimüllerian hormon (AMH)
34
Amikacin
25
Amino acids (blood)
25
Amino acids (urine 24h)
25
Aminoantipyrine
25
Amiodarone
25
Amisulpride
26
Amitriptylin + Nor.-
26
Ammonia
see Ammonium
26
Ammonium
26
Amoebiasis Ig
26
Amoxicillin
26
Amphetamines
26
391
Index
Index
Index
Index
392
392
Amphetamines (+ ecstasy)
26
Amphetamines (+ Mdma) Urine see Amphetamines (+ ecstasy)
26
Amphetamines Screening Urine
see Drug screening (Urine)
67
Amphiphysine Antibodies
see Anti-Amphiphysine Ab
28
Amphotericin B
26
Ampicillin IgE
141
Amprenavir
27
Amy
see Amylase (total)
27
Amylase see Total amylase
130
Amylase (puncture fluid)
27
Amylase (total)
27
Amylase Isoenzymes
see Pancreatic amylase
108
Amylase Isoenzymes (Puncture Fluid)
see Pancreatic amylase (puncture fluid)108
Amylase Isoenzymes Urine
see Pancreatic amylase (urine)
108
Amylase Urine 24H
see Total amylase (urine 24h)
130
Amylase, total (urine 24h)
27
Amyloid serum A
27
Anca
see Anti-lactoferrin Ab
33
Anca
see Anti-myeloperoxidase Ab
34
Anca
see Anti-neutrophilic cytoplasmic Ab (ANCA)35
ANCA
27
Anchovy
142
27
Androstenedione
see Delta-4-Androstenedione
65
Androsterone
27
Angioconvertase
28
Angiotensin Converting Enzyme
see Angioconvertase
28
Angiotensin II
28
Anguillulosis IgG
28
Anisakis
152
Anise
142
Ant-Epithelial Pancreatic Duct Antibodies
see Pancreatic duct epithelial Abs
108
Anti 21-Hydroxylase Ab
see Anti-cortico adrenal Ab (IF)
30
Anti Adenovirus Antibodies
see Adenovirus
21
Anti Adrenal Gland Antibodies
30
Anti Alpha Interferon Neutralizing Antibodies
see Alpha-Interferone abs
24
Anti Ameba Igg
see Amoebiasis Ig
26
Anti Anguillulosis Igg
see Anguillulosis IgG
28
Anti Apc Antibodies
see Adenovirus
21
Anti B2Gp1 Abs
see Anti-Beta 2-glycoproteins I Ab
28
Anti B2Gp1 Igg
see Beta 2-glycoprotein IgG
42
Anti B2Gp1 Igg
see Beta 2-glycoprotein IgM
42
Anti Bartonella Henselae Igg
see Bartonella henselae (IgG)
41
Anti Bartonella Henselae Igm see Bartonella henselae (IgM)
41
Anti Bartonella Henselae Igm Igg
see Bartonella henselae (IgG, IgM)
41
Anti Black Pepper Igg
see Black pepper, IgG
149
Anti Bordetella Pertussis Igg
see Bordetella pertussis IgA
46
see
see
Anti Bordetella Pertussis Igg, Iga
see
Anti Borrelia Igg
see
Anti Campylobacter Antibodies
see
see
see
Anti Campylobacter Foetus Antibodies
see
Anti Campylobacter Foetus Antibodies
see
Anti Candida Albicans Igg
see
Anti Chlamydea Pneumoniae Igg Iga
see
Anti Chlamydea Psitaccu Igg Iga
see
Anti Chlamydea Trachomatis Igg Iga
see
Anti Citruline Antibodies
see
Anti Cl (Igg + Igm)
see
Anti Cyclic Citrulinaded Peptide Ab
see
Anti Cysticercosis Igg
see
Anti Cytomegalovirus Igg
see
Anti Cytomegalovirus Igg
see
Anti Cytomegalovirus Igg Avidity
see
Anti Cytomegalovirus Igg Igm
see
Anti Cytomegalovirus Igm
see
Anti Dengue Igg Igm
see
Anti Dna Native Antibodies
see
Anti Double Strand Dna Antibodies
see
Anti Ebv Ea Igg
see
Anti Ebv Ebna Igg
see
Anti Ebv Igg Igm
see
Anti Ebv Vca Igg
see
Anti Ebv Vca Igm
see
Anti Echinococcus Antibodies Screnning
see
Anti Echinococcus Granulosus Antibodies
see
Anti Echinococcus Multilocularis Antibodies
see
Anti Antibodies
see
Anti Ena Antibodies
see
Anti Ena Antibodies
see
Anti Epo Antibodies
see
Anti Epstein-Barr Virus Igg Igm see
Anti Erythropoietin Antibodies
see
Anti Eye Antibodies
see
Anti Fasciola Hepatica Antibodies
see
Anti Fi Ab
see
46
Bordetella pertussis, immunity (IgG) 46
46
Borrelia sp. IgG Anti-VLSE
46
Campylobacter Ab
49
50
Campylobacter Ab
49
50
Campylobacter Ab
49
157
Chlamydia pneumoniae (IgG IgA) 52
52
52
Anti-CCP Ab
29
29
Anti-CCP Ab
29
Cysticercosis IgG
63
Cytomegalovirus IgG
64
Cytomegalovirus, presence of
immunity (IgG)
64
64
64
Cytomegalovirus IgM
64
Dengue IgG + IgM
65
Anti-dsDNA Ab (FIA)
30
Anti-dsDNA Ab (FIA)
30
69
69
69
69
70
Echinococcus, screening
(multilocularis, granulosus)
67
67
67
68
Anti-centromere Ab
29
Anti-Jo 1 Ab
33
Erythropoietin Abs
70
69
Erythropoietin Abs
70
Anti-Cornea Abs
30
67
32
393
Index
Index
Index
Index
394
394
Anti Fi Ab
Anti Filagrin Antibodies
Anti Filaria Igg
Anti Gamma Staphylolysin Ab
Anti Gastric Cells Antibodies
Anti Gd1A Ab
Anti Gd1A Ab
Anti Gd1B
Anti Gd1B
Anti Gd2 Ab
Anti Gd2 Ab
Anti Gd3 Ab
Anti Gd3 Ab
Anti Glomerular Basement Membrane Ab
Anti Glycolipid Antibodies
Anti Gm1 Ab
Anti Gm1 Ab
Anti Gm2 Ab
Anti Gm2 Ab
Anti Gm3 Ab
Anti Gm3 Ab
Anti Gm4 Ab
Anti Gm4 Ab
Anti Goblet Cells Antibodies
Anti Gq1B Ab
Anti Gq1B Ab
Anti Gt1A Ab
Anti Gt1A Ab
Anti Gt1B Ab Anti Gt1B Ab Anti Hantavirus Igg, Igm
Anti Hav Igg
Anti Hav Igg
Anti Hav Igm
Anti Hav Igm
Anti Hbc Antibodies, Hbv
Anti Hbc Igg, Hbv
Anti Hbe Antibodies, Hbv
Anti Hbs Antibodies, Hbs
Anti Hcv Antibodies
Anti Hcv Igg
Anti Hdv Antibodies
Anti Herpes Simplex 1+2 Igg Igm
Anti Herpes Simplex 6 Igg see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
32
Anti-CCP Ab
29
72
Anti-staphylolysin
37
31
Anti-Ganglioside IgG, IgM Ab (screening)31
Ganglioside Profile
77
Ganglioside Profile
77
Ganglioside Profile
77
Ganglioside Profile
77
Anti-glomerular basal membrane Ab 31
Anti-Ganglioside GQ1b IgG, IgM Ab 31
Ganglioside Profile
77
Ganglioside Profile
77
Ganglioside Profile
77
Ganglioside Profile
77
Ganglioside Profile
77
Goblet cell Abs
79
Ganglioside Profile
77
Ganglioside Profile
77
Ganglioside Profile
77
Hantavirus IgG, IgM
80
Acute Hepatitis A (IgG, IgM) (Anti-HAV)20
20
Acute Hepatitis A (IgG, IgM) (Anti-HAV)20
20
82
82
82
82
83
20
83
84
Herpes virus 6 IgG
84
Anti Herpes Simplex 6 Igg Igm
Anti Herpes Simplex 6 Igm
Anti Hsv + Igg Igm
Anti Hsv 1+2 Igg Igm
Anti Hsv 6 Igg
Anti Hsv 6 Igm
Anti Hypothalamus Antibodies
Anti Influenza A B Antibodies
Anti Insulin Antibodies
Anti Insulin Receptor Antibodies
Anti Islet Cells Ab (Ifi)
Anti Liver Cytosol Type 1
Anti M2 Antibodies
Anti Ma1
Anti Mgt30 Antibodies
Anti Microsomal Thyroidian Antibodies
Anti Mpo
Anti Muscle-Specific Tyrosine Kinases Ab
Anti Musk Ab
Anti Myocardium An
Anti Myosin Antibodies
Anti Neuromuscular Junction Antibodies
Anti Neuron Antibodies
Anti Neuron Antiboides
Anti Nuc Antibodies
Anti Parietal Cell Stomach Antibodies
Anti Platelet Antibodies Bound
Anti Pr3 Antibodies
Anti Rsv Antibodies
Anti Scl70
Anti Skin Antibodies
Anti Smith Ab
Anti Soluble Liver Antigen Antibodies
Anti Ssa Antibodies
Anti Ssb Antibodies
Anti Stomach Antibodies
Anti Streptolysin O
Anti Taenia Solium Igg
Anti Tg
Anti Tg Antibodies
Anti Thyroxine Antibodies
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Herpes virus 6 IgM
Herpes virus 6 IgG
Herpes virus 6 IgM
Hypothalamus Abs
Influenza A, B
Anti-CNS Antibodies, screening
Anti-MuSK Ab
Anti-MuSK Ab
Anti-myocard Ab
Anti-CNS Antibodies, screening
Anti-Ma2 Ab
Anti-CV2 Ab
Anti-Ri Ab
Anti-Yo Ab
Anti-Ma1 Ab
Anti-nucleosome Ab
Anti-platelet Ab
Anti-Scl 70 Ab
Anti-epidermal Antibodies
Anti-Sm Ab
Anti-SLA Ab
Anti-SSA/Ro Ab
Anti-SSB/La Ab
ASLO Anti-streptolysin-O
Cysticercosis IgG
Anti-T4 Ab
84
85
84
84
84
85
87
89
32
89
33
32
34
29
39
38
34
34
34
34
38
28
29
33
28
30
36
39
33
35
31
35
36
122
36
31
37
36
37
37
35
41
63
38
38
38
395
Index
Index
Index
Index
396
396
Anti Tissue Antibodies
see Anti-smooth muscle Ab
37
Anti Topoisomerase Ab
see Anti-Scl 70 Ab
36
Anti Topoisomerase Antibodies
see Anti-nucleoprotein Ab
35
Anti Tpo
see Anti-thyroperoxidase (TPO) Ab
38
Anti Tpo Antibodies
38
Anti Tryiodothyronine Antibodies
see Anti-T3 Ab
38
Anti Tyrosine Phosphatase Antibodies
see Anti-IA2 Ab
32
Anti Vgcc Antibodies
see Anti-calcium channels Ab
29
Anti Vgkc Antibodies
see Anti-potassium channels Ab
36
Anti Vlse Igg Borrelia Sp
see Borrelia sp. IgG Anti-VLSE
46
Anti Xa Activity
see Anti-Xa activity
39
28
Anti-Achr
see Anti-acetylcholin receptor Ab
28
Anti-Actin Ab
37
Anti-Actin Ab
see Anti-cytoskeleton Ab
30
Anti-actine
28
Anti-Almond, IgG
148
Anti-Alpha-lactalbumin, IgG
148
Anti-Amaril Virus Antibodies
137
28
Anti-Amphisyne
see Anti-CNS Antibodies, screening
29
Anti-Apple, IgG
148
Anti-Arthropodborne Virus Igg Antibodies
see Western Nile Fever (WNF) IgG
137
Anti-Arthropodborne Virus Igm Antibodies
see Western Nile Fever (WNF) IgM
137
Anti-B19 Antibodies see Parvovirus B19 (IgG, IgM)
110
Anti-B19 Antibodies Igg
see Parvovirus B19 IgG (EIA)
110
Anti-Banana, IgG
148
Anti-Barley, IgG
148
Anti-Basal Membrane Ab
see Anti-epidermal Antibodies
31
Anti-Beef, IgG
148
Anti-Beta 2-glycoproteins I Ab
28
Anti-Beta-lactoglobulin, IgG
148
Antibodies Heparin-Induced Thrombocytopenia see Heparin-induced thrombocytopenia abs 81
Anti-Borrelia Antibodies
see Lyme disease
96
Anti-Buckwheat, IgG
148
Anti-Cabbage, IgG
148
Anti-Cacao, IgG
148
Anti-calcium channels Ab
29
Anti-Calcium-Sensing Receptor Antibodies
see Parathyroid Abs
110
Anti-Candida (Mannane) Ig
29
29
Anti-Carrot, IgG
148
Anti-Casein, Milk, IgG
148
Anti-Cashew nut, IgG
148
Anti-CCP Ab
29
Anti-Celery, IgG
148
Anti-Cenp B
Anti-Central Nervous System Antibody see Anti-CNS Antibodies, screening
Anti-centromere Ab
Anti-Chicken, IgG
Anti-Chikungunya Virus Antibodies
see Virus Chikungunya IgG + IgM
Anti-Cns Antibodies, Screening
see Anti-Amphiphysine Ab
see Anti-CV2 Ab
see Anti-Hu Ab
see Anti-Ri Ab
see Anti-Yo Ab
see Anti-Ma1 Ab
see Anti-Ma2 Ab
Anticoagulant Proteina C Activity
see Protein C (activity)
Anticoagulant Proteina C Antigen
see Protein C (Antigen)
Anti-Cod, IgG
Anti-Coffee, IgG
Anti-Collagen Antibodies
see Anti-collagen type 2 Ab
Anti-collagen type 2 Ab
Anti-colon epithelium Ab
Anti-Coriander, IgG
Anti-Cornea Abs
Anti-cortico adrenal Ab (IF)
Anti-cow milk Ab
Anti-Coxiella Burnetii Fase I Y Ii Antibodies
see Q fever
Anti-Cv2
Anti-CV2 Ab
Anti-cytoskeleton Ab
Antidiuretic hormone (ADH)
Anti-DNA polymerase Abs
Anti-Dog dander IgG
Anti-dsDNA Ab (FIA)
Anti-Egg yolk, IgG
Anti-Egg, whole, IgG
Anti-Eggwhite, IgG
Anti-endomysium Ab
Anti-Enterocytes Antibodies
see Anti-colon epithelium Ab
Anti-epidermal antibodies
Anti-exocrine pancreas
Anti-Fta Syphilis Antibodies
see Syphilis FTA abs. Ig (IF)
Anti-Fta Syphilis Igm Antibodies
see Syphilis FTA abs. IgM (IF)
Anti-Fta Treponema Pallidum Antibodies
Anti-Fta Treponema Pallidum Igm Antibodies see Syphilis FTA abs. IgM (IF)
Anti-Fungus, IgG
Anti-GAD II (65kD) Ab
Anti-Ganglioside GQ1b IgG, IgM Ab
Anti-Ganglioside IgG, IgM Ab (screening)
35
29
29
148
135
28
30
32
36
39
33
33
117
117
148
148
29
29
29
148
30
30
30
121
29
30
30
30
30
153
30
148
148
148
30
29
31
31
128
128
128
128
148
31
31
31
397
Index
Index
Index
Index
398
398
Anti-Garlic, IgG
148
Anti-Gastric Parietal Cell Ab
see Anti-intrinsic factor Ab
32
31
Antigen Candida (Mannane)
see Candida (Mannane) Ag (EIA)
50
Antigens Erythrocyte see Erythrocyte Antigens
70
Anti-gliadin IgA Ab
31
Anti-gliadin IgG Ab
31
Anti-glomerular basal membrane Ab
31
Anti-Glutamic Acid Decarboxylase Ab see Anti-GAD II (65kD) Ab
31
Anti-gluten, IgG
148
Anti-Goat milk, IgG
148
Anti-Grape IgG
148
Antihaemophilic A
see Clotting Factor VIII
56
Antihaemophilic B
see Clotting Factor IX
56
Anti-haemophilus Ab
32
Anti-Hazelnut, IgG
148
Anti-Hbc Ab
see Acute Hepatitis (HAV, HBV, HCV)
20
Anti-Hbc Ab
see Acute Hepatitis B
20
Anti-Hbc Igm Ab
20
Anti-Hbc Igm Ab
20
32
Anti-histones Ab
32
Anti-Hiv 4ª Generation Antibodies
see p24 Ag/Anti-HIV 1+2 Ab (4th gen.) 108
Anti-HTLV1 / HTLV2
32
Anti-Hu
29
Anti-Hu Ab
32
32
Anti-hyaluronidase
32
Anti-IA2 Ab
32
Anti-Intercellular Substance Antibodies
31
Anti-Intestinal Antibodies
29
Anti-Intrinsic Factor Ab
see Anti-parietal cells Ab
35
32
Anti-Intrinsic Factor Antibodies
see Anti-gastric parietal cell AB
31
33
Anti-Jo 1 Ab
33
Anti-Jo1
see Anti-Synthetases Ab
38
Anti-Jo1
35
Anti-kiwi, IgG
148
Anti-Ku
38
Anti-lactoferrin Ab
33
Anti-Legionella Pneumophila Antibodies
see Legionella pneumophila (IgG, IgM) 93
Anti-Leishmaniasis Antibodies
see Visceral leishmaniosis Ig
135
Anti-Lentil, IgG
149
Anti-Listeria Monocytogenes Antibodies
see Listeria
95
Anti-LKM Ab
33
Anti-Lupin seed, IgG
149
Anti-Lyme Disease Antibodies
see Lyme disease
96
Anti-Ma1 Ab
33
Anti-Ma2
29
Anti-Ma2 Ab
33
Anti-MAG IgM
33
Anti-Maize/corn, IgG
149
Anti-Malaria Antibodies
see Malaria abs
98
Anti-Measles Antibodies
see Measles (IgG, IgM)
98
Anti-Measles Igg Antibodies
see Measles, immunity (IgG)
98
Anti-Melon IgG
149
Anti-Mi2
38
Anti-Mistel-Lectin Antibodies Igg 1-4
see Mistellectin IgG 1-4 abs
101
Anti-mitochondria Ab
33
34
Antimony
34
Anti-Mouth Mucosa Antibodies
see Mouth mucosa abs
101
Antimüllerian hormon (AMH)
34
Anti-Mumps Igg Antibodies
see Mumps, immunity (IgG)
101
Anti-Mumps Igg, Igm Antibodies
see Mumps (IgG, IgM)
101
Anti-Mumps Paramyxovirus Igg, Igm Antibodies
101
Anti-Mumps Paramyxovirus Igg Antibodies
101
Anti-Mumps Virus Igg Antibodies
101
Anti-Mumps Virus Igg, Igm Antibodies
101
Anti-MuSK Ab
34
Anti-Mustard, IgG
149
Anti-Mycoplasma Pneumoniae Antibodies
see Mycoplasma pneumoniae Ig
102
Anti-myelin Ab
34
34
Anti-myocard Ab
34
Anti-Myosin Antibodies
see Myosin abs
102
Anti-native DNA Ab
34
Anti-Neuroendothelial Antibodies
see Neuroendothelial Abs
104
Anti-Neurofilaments Antibodies
see Neurofilaments Abs
104
Anti-Neutrophil-Cytoplasmic-Antibodies
see ANCA
27
Anti-Neutrophilic Cytoplasmic Ab (Anca)
33
34
see Anti-proteinase 3 Ab
36
Anti-neutrophilic cytoplasmic Ab (ANCA)
35
Anti-nuclear Ab (ANA)
35
Anti-Nucleoprotein Ab
see Anti-Scl 70 Ab
36
see Anti-Sm Ab
37
see Anti-SSA/Ro Ab
37
see Anti-SSB/La Ab
37
Anti-Nucleoprotein Autoantibodies
see Anti-Jo 1 Ab
33
399
Index
Index
Index
Index
400
400
Anti-Nucleoprotein Autoantibodies.
see Anti-centromere Ab
29
Anti-nucleosome Ab
35
Anti-Oat, IgG
149
Anti-Onion, IgG
149
Anti-Orange, IgG
149
Anti-ovarian Ab
35
Anti-P53 Antibodies
see P53 Abs
108
Anti-Paprika (sweet pepper) IgG
149
Anti-Parathyroid Antibodies
see Parathyroid Abs
110
Anti-Parathyroidtissue Antibodies
see Parathyroid tissue Abs
110
Anti-Parietal Cell Antibodies
see Anti-gastric parietal cell AB
31
35
Anti-Parvovirus B19 Antibodies
see Parvovirus B19 (IgG, IgM)
110
Anti-Parvovirus B19 Antibodies Igg
110
Anti-Peach, IgG
149
Anti-Peanut, IgG
149
Anti-Pear, IgG
149
Anti-Pecan nut, IgG
149
Antiperinuclear Antibodies
see Anti-CCP Ab
29
Anti-Pf4 Heparin Abs
see Heparin-induced thrombocytopenia abs 81
Anti-Phosphatidylserin Antibodies
see Phosphatidylserine Abs
112
Anti-Phospholipid Ab
28
42
42
Anti-Phosphosfolipides Abs
29
Anti-Picornavirus I, Ii, Iii Antibodies
see Poliovirus I, II, III
113
Anti-Pineapple, IgG
149
Anti-Pistachio, IgG
149
Anti-Pituitary Antibodies
see Pituitary Abs
113
Anti-Pl12
38
Anti-Pl7
38
Anti-Plasmodium Antibodies
see Malaria abs
98
Anti-platelet Ab
35
36
Anti-Poliovirus I,Ii, Ii Antibodies
113
Anti-Pork, IgG
149
36
Anti-Potato, IgG
149
Anti-Prickle Cell Desmosomas Antibodies
see Prickle cell desmosomes Abs
115
36
Anti-Rabbit, IgG
149
Anti-rabies Ab
36
Anti-Ri
29
Anti-Ri Ab
36
Anti-ribosomal Ab
36
Anti-Rice, IgG
149
Anti-Rickettsia Sp. Antibodies
see Rickettsia sp. (IgG, IgM)
123
Anti-Rnp
35
Anti-Rubella Antibodies
see Rubella (IgG, IgM)
124
Anti-Rubella Igg Antibodies see Rubella, immunity (IgG)
124
Anti-Rubella Igg Antibodies Avidity see Rubella IgG Avidity
124
Anti-Rye, IgG
149
Anti-salmon, IgG
149
Anti-Salmonella Antibodies
see Salmonella
125
Anti-Sardine (pilchard), IgG
149
Anti-Schistosomiasis Antibodies
see Schistosomiasis
126
Anti-Scl 70 Ab
36
Anti-Scl70
35
Anti-Sesame seed, IgG
149
Anti-Sheep milk, IgG
149
Anti-Síphilis Igg Antibodies Wb
see Treponema pallidum IgG WB
133
Anti-Síphilis Igm Antibodies Wb
see Treponema pallidum IgM WB
133
Anti-SLA Ab
36
Anti-Sm
35
Anti-Sm Ab
37
Anti-smooth muscle Ab
37
Anti-Smooth Muscle Antibodies
see Anti-actine
28
Anti-Smooth Muscle
Antibodies/Anti-Tissue Antibodies
see Myosin abs
102
Anti-Soya bean, IgG
149
Anti-sperm Ab, IgA
37
Anti-sperm Ab, IgG
37
Anti-Spinach, IgG
149
Anti-Srp
38
Anti-Ssa
35
Anti-SSA/Ro Ab
37
Anti-Ssb
35
Anti-SSB/La Ab
37
Anti-staphylolysin
37
Anti-Strawberry, IgG
149
Anti-streptodornase B
37
38
Anti-Striated Muscle Antibodies
see Myosin abs
102
Anti-Sugar beet (seed), IgG
149
Anti-Synthetases Ab
38
Anti-Syphilis Antibodies
see Syphilis Ig
129
Anti-T3 Ab
see Anti-thyroid Ab
38
Anti-T3 Ab
38
Anti-T4 Ab
see Anti-thyroid Ab
38
Anti-T4 Ab
38
Anti-T4 Ab
38
Anti-Tbe Virus Antibodies
see Tick-borne encephalitis
129
401
Index
Index
Index
Index
402
402
Anti-Tea, IgG
149
Anti-thrombin III
38
Antithrombin Iii Activity
see Anti-thrombin III
38
Anti-Thyroglobulin Ab
see Anti-thyroid Ab
38
Anti-Thyroglobulin Ab
see Anti-thyroid Ab
38
38
Anti-Thyroid Ab
see Anti-thyroglobulin Ab
38
Anti-Thyroid Ab
38
Anti-Thyroid Ab
see Anti-T3 Ab
38
Anti-Thyroid Ab
see Anti-T4 Ab
38
Anti-thyroid Ab
38
38
39
Anti-Tomato, IgG
149
Anti-Toxocara Igg Antibodies
see Toxocarosis IgG
131
Anti-Toxoplasma Gondii Antibodies
see Toxoplasmosis IgG, IgM
132
Anti-Toxoplasma Gondii Igg Antibodies
see Toxoplasmosis IgG
132
Anti-Toxoplasma Gondii Igg Antibodies
see Toxoplasmosis, presence of immunity (IgG) 132
Anti-Toxoplasma Gondii Igg Antibodies Avidity see Toxoplasmosis IgG Avidity
132
Anti-Toxoplasma Gondii Igm Antibodies
see Toxoplasmosis IgM
132
Anti-transglutaminase Ab, IgA
39
Anti-transglutaminase Ab, IgG
39
Anti-transglutaminase IgG + IgA
39
Anti-Treponema Pallidum Antibodies
see Syphilis Ig
129
Anti-Treponema Pallidum Igg Antibodies Wb
see Treponema pallidum IgG WB
133
Anti-Treponema Pallidum Igm Antibodies Wb
see Treponema pallidum IgM WB
133
Anti-Trichinella Antibodies
see Trichinosis
133
Anti-TSH receptor Ab
39
Anti-Tubulin Ab
30
Anti-tuna, IgG
149
Anti-U1-Rnp
35
Anti-Varicelazostervirus Antibodies
see Varicella zona virus Ig (FC)
135
Anti-Vimentin Ab
30
Antiviral Resistence Profile Hiv1
see HIV1 Antiretroviral ther. resistance 85
Anti-Vzv Antibodies
see Varicella zona virus Ig (FC)
135
Anti-Walnut, IgG
149
Anti-Wheat, IgG
149
Anti-Xa activity
39
Anti-Yeast, IgG
149
Anti-Yellow Fever Antibodies
137
Anti-Yersinia Antibodies
see Yersiniosis
137
Anti-Yo
29
Anti-Yo Ab
149
Apc
see Adenovirus
21
Apc (Pcr)
see Adenovirus (PCR)
21
Apo A1
see Apolipoprotein A-1
39
Apo B
see Apolipoprotein B
40
Apo E
see Apolipoprotein E
40
Apoa1/Apob
see Apolipoprotein A-1, B
40
Apolipoprotein A-1
39
Apolipoprotein A-1, B
40
Apolipoprotein B
40
Apolipoprotein E
40
Apolipoprotein E, genotyping
40
Apple
142
Apple Igg
see Anti-Apple, IgG
148
Apricot
142
Arbovirus
40
Arginine Vasopresin
see Antidiuretic hormone (ADH)
30
Arsa
see Arylsulfatase A
40
Arsa
see Arylsulfatase A
40
Arsb
see Arylsulfatase B
40
Arsenic (urine)
40
156
Arthropodborne Virus Igg see Western Nile Fever (WNF) IgG
137
Arthropodborne Virus Igm see Western Nile Fever (WNF) IgM
137
Arthropodborne Virus Pcr In Csf
see West nile virus (PCR) in CSF
137
Arylsulfatase A
40
Arylsulfatase A
40
Arylsulfatase B
40
As
see Arsenic (urine)
40
ASAT (GOT)
41
Ascaris
152
Ascorbate
41
Ascorbic Acid
see Vitamin C (ascorbate)
136
Ascorbic Acid Vitamin C
see Ascorbate
41
Asd
see Anti-streptodornase B
37
Asdb
37
Asdor
37
Asilaotransferrin
see CDT (Carbohydrate deficient transferrin) 51
ASLO anti-streptolysin-O
41
Asparagus
142
Aspartate Aminotransferase
see ASAT (GOT)
41
Aspartate Transaminase
see ASAT (GOT)
41
Aspergillosis Screening
41
Aspergillus (6 Species)
see Aspergillus flavus IgE
157
see Aspergillus fumigatus
157
see Aspergillus niger IgE
157
see Aspergillus terreus IgE
157
Aspergillus (6 species)
157
Aspergillus Ag
see Ag. Aspergillus (Galactomannane) 22
157
403
Index
Index
Index
Index
404
404
157
157
157
Asta
see Anti-staphylolysin
37
Atazanavir
41
157
Australia Antigen
see Hepatitis B, HBs Ag
83
Australian pine
155
Avidity Cmv Igg
see Cytomegalovirus IgG Avidity
64
Avocado
142
B19 Igg
110
B19 Igg/Igm Serology
see Parvovirus B19 (IgG, IgM)
110
B19 Pcr
see Parvovirus B19 (PCR)
110
B2Gp1 Abs
42
B2Gp1 Abs
42
B2Gp1 Antibodies
28
B2M
see Beta-2 microglobulin
43
B2M Urine
see Beta-2 microglobulin (Urine)
43
Bac T Alert Rapid Medium see Mycobacteria
(culture and direct examination) 102
Bahia grass
150
Bamboo shoot
142
Banana
142
Banana Igg
see Anti-Banana, IgG
148
Barbiturates
41
Barbiturates Screening Urine
67
Barbiturates Urine Screening
see Barbiturates
41
Barley
142
Barley (pollen)
150
Barley Igg
see Anti-Barley, IgG
148
Bartonella henselae (IgG)
41
Bartonella henselae (IgG, IgM)
41
Bartonella henselae (IgM)
41
Bartonella henselae + Afipia felis
42
Bartonella Henselae + Afipia Felis (Pcr)
see Bartonella henselae + Afipia felis
42
Basement Membrane+Intercellular
Substance-Antibodies
31
Basil
142
Bay leaf
142
BCR ABLP 190 Gene Rearrangement (FISH)
42
Bcr/Abl P190
see BCR ABLP 190 Gene Rearrangement (FISH)
42
Bee
151
Beef
142
Beef Igg
see Anti-Beef, IgG
148
Beet
142
Bence Jones
see Free kappa/lambda light chains
75
Bence Jones (Urine 24H)
see Kappa/lambda light chains (urine 24h)91
Bence Jones (Urine)
see Kappa/lambda light chains (urine) 91
150
Benzene
42
Benzodiacepines Urine Screening
see Benzodiazepines
42
Benzodiazepines
42
Benzodiazepines (serum)
42
Benzodiazepines Screening Urine
67
Benzoylecgonine (Urine)
see Cocaine (urine)
57
Benzoylmethylecgonine
see Serum cocain (qn)
127
Berlin beetle
151
Bermuda grass
150
Beta 2-glycoprotein IgG
42
Beta 2-glycoprotein IgM
42
Beta 2-Glycoproteins I Antibodies
28
42
42
Beta Carotene
43
Beta Hcg Free Chain
see Beta-hCG (free)
43
Beta Hcg Free Chain
see Free Beta-hCG
74
Beta Hcg Free Chain
see hCG (free beta-hCG)
80
Beta-2 microglobulin
43
Beta-2 microglobulin (Urine)
43
Beta-CrossLaps (CTx)
43
Betacryptoxantin
see Beta Carotene
43
Beta-galactosidase
43
Beta-hCG (free)
43
Beta-Hydroxybutyric Acid
see Ketone bodies
91
Beta-Lactoalbumin Igg
see Anti-Beta-lactoglobulin, IgG
148
Beta-lactoglobulin
142
Beta-trace protein
43
B-Gal
see Beta-galactosidase
43
B-Galactosidase
see Beta-galactosidase
43
Bi
see Bismuth
45
Bicarbonates
44
Bile Acids
see Biliary acids
44
Bile Salts
see Biliary acids
44
Biliary acids
44
Bilirubin, conjugated
44
Bilirubin, total
44
Bilirubin, total (puncture fluid)
44
Bilurrubin Direct
see Bilirubin, conjugated
44
Biotin
see Vitamin H (Biotin)
136
Biotin
44
Biotinidase
44
405
Index
Index
Index
Index
406
406
Biperidene
45
155
Bird feathers mix
139
Bismuth
45
Bismuth (urine)
45
Black pepper
142
Black pepper, IgG
149
Blackberry
142
Blackcurrant
142
Blood Film
see Heinz bodies
81
Blood Group Determination
see Blood Typing
45
see Blood typing ABO,
Rhesus typing, irregular allo Ab
45
see Blood typing newborn ABO, Rhesus typins, direct Coombs
45
Blood Typing
45
Blood typing ABO, Rhesus typing, irregular allo Ab
45
Blood typing newborn ABO, Rhesus typins, direct Coombs
45
Blood worm
151
Blue mussel
142
Blue vetch
143
Blueberry
143
BNP (Brain Natriuretic Peptide)
45
Bnp Precursor
see Pro-BNP
115
Bnp Precursor/B-Type Natriuretis Peptide
see NT-proBNP
105
Bone alkaline phosphatase
46
Bone Alp
46
Bone Specific Alkaline Phosphatase
46
46
Bordetella pertussis IgA
46
46
Bordetella pertussis, immunity (IgG)
46
Borrelia sp. IgG anti-VLSE
46
Borrelia sp. Immunoblot IgG
46
Borrelia sp. Immunoblot IgM
46
Borreliosis Serology
see Lyme disease
96
Botrytis cinerea
157
Bougaivillea
152
Bovine lactoferrin
143
Brain Natriuretic Peptide
see BNP (Brain Natriuretic Peptide)
45
Brazil nut
143
Broccoli
143
Bromazepam
47
Brome grass
150
Bromelin, pineapple
152
Bromide
47
Bromine
see Bromide
47
Brucella
47
Brucellosis Screening Serology
see Brucella
47
Brussels sprouts
143
Btd
see Biotinidase
44
Buckwheat
143
Buckwheat Igg
see Anti-Buckwheat, IgG
148
153
Budgerigar feathers
153
154
Bumblebee
151
Bupropion
47
C Cystatin
see Cystatin C
63
C Reactive Protein
see CRP
62
C Telopeptide Of Type I Procollagen
see Beta-CrossLaps (CTx)
43
C Telopeptide Of Type I Procollagen (Urine)
see Crosslaps (urine)
62
C1 Inh
see C1-esterase inhibitor, activity and ponderal
47
C1 Inh
see Complement C1 esterase inhibitor, functional
58
C1 Inh
see Complement C1 inhibitor, mass
58
C1 Inhibitor Functional
58
C1 Inhibitor Functional
see C1-esterase inhibitor, activity and
ponderal
47
C1 Inhibitor Mass
58
C1 Inhibitor Quantification
ponderal
47
C1 Inhibitor Quantification
58
C1-esterase inhibitor, activity and ponderal
47
C1Q Complement Fraction
see Complement C1q
58
C2 Complement Fraction
see Complement C2
58
see Complement C3
58
C3-C4 Complement Fraction
see Complement C3 C4
58
see Complement C4
59
C4D Complement Fraction
see Complement C4d
59
see Complement C5
59
Ca
see Total calcium
130
Ca (Urine 24H)
see Calcium (urine 24h)
49
Ca (Urine)
see Calcium (urine)
49
CA 125
47
CA 125 (puncture fluid)
47
CA 15-3
47
48
CA 19-9
48
407
Index
Index
Index
Index
408
408
48
Ca 2+
see Ionized calcium
90
CA 72-4
48
Ca Total
see Calcium, total
49
Cabbage
143
Cabbage Igg
see Anti-Cabbage, IgG
148
Cacao
143
Cacao Igg
see Anti-Cacao, IgG
148
Cadmium
48
Cadmium (urine 24h)
48
Cadmium (urine)
48
Caffeine
49
Calcitonin
49
Calcium
see Total calcium
130
Calcium (urine 24h)
49
Calcium (urine)
49
Calcium Channels Antibodies
see Anti-calcium channels Ab
29
Calcium Ionized
see Ionized calcium
90
Calcium, total
49
Calculated Free Testosterone
see Free testosterone (calculated)
75
Calprotectin
49
Campylobacter Ab
49
Campylobacter Fœtus Ab
see Campylobacter Ab
49
50
Campylobacter Jejuni Ab
see Campylobacter Ab
49
49
154
154
Canary grass
151
C-Anca
see ANCA
27
C-Anca
see Anti-neutrophilic cytoplasmic Ab (ANCA)
35
Candida (Mannane) Ag (EIA)
50
Candida (Mannane) Antibodies
see Anti-Candida (Mannane) Ig
29
Candida albicans
147
Candida albicans (HAI)
50
157
Cannabis (THC)
50
Cannabis (THC), quantitatiove in serum
50
Cannabis Screening Urine
67
Carambola
143
Caraway
143
Carbamazepine
50
Carbimazol
Carbohydrate Antigen 125
see CA 125
47
Carbohydrate Antigen 125 (Puncture Fluid)
see CA 125 (puncture fluid)
47
Carbohydrate Antigen 15-3
see CA 15-3
47
Carbohydrate Antigen 15-3 (Puncture Fluid)
see CA 15-3 (puncture fluid)
48
see CA 19-9
48
Carbohydrate Antigen 19-9 (Puncture Fluid)
see CA 19-9 (puncture fluid)
48
see CA 72-4
48
Carbohydrate Deficient Transferrin
Carboxyhemoglobin
50
Carcinoembryonic Antigen
see CEA
51
Carcinoembryonic Antigen (Puncture Fluid)
see CEA (puncture fluid)
51
Cardamon
143
Cardiolipin (Igg + Igm)
29
Caretonoids
see Beta Carotene
43
Carnitine
51
Carob
143
Carrot
143
Carrot Igg
see Anti-Carrot, IgG
148
Casein Milk Igg
see Anti-Casein, Milk, IgG
148
Casein, Milk
143
Casheut Nut Igg
see Anti-Cashew nut, IgG
148
Cashew nut
143
Caspofungin
see Caspofungin
51
Castor bean
152
Cat dander
154
Cat serum albumin
154
Catecholamin Metabolites
see Metanephrines
99
Catecholamines
51
Catecholamines Metabolites
see Nor-/Metanephrine
104
Cauliflower
143
Ccp Antibodies
see Anti-CCP Ab
29
Cd
see Cadmium
48
Cd (Urine 24 H)
see Cadmium (urine 24h)
48
Cd (Urine)
see Cadmium (urine)
48
CDT (Carbohydrate deficient transferrin)
51
CEA
51
CEA (puncture fluid)
51
Cedar
155
141
Celery
143
Celery Igg
see Anti-Celery, IgG
148
Cellularity (Puncture Fluid)
see Elements (puncture fluid)
68
Cellularity Csf
see Elements (CSF)
68
Centromere Antibodies
see Anti-centromere Ab
29
157
Cereal mix
139
Ceruloplasmin
51
Cga
see Chromogranin A
54
CH50 (haemolytic complement)
51
409
Index
Index
Index
Index
410
410
Chaetomium globosum
Chamomilla
Cheese, mold type
Chenodeoxycholic Acid
see Biliary acids
Cherry
Chestnut
Chick pea
Chicken
Chicken droppings
Chicken feathers
Chiken Igg
see Anti-Chicken, IgG
Chikungunya Serology
see Virus Chikungunya IgG + IgM
Child food
Child food allergy screening
Chilipepper
Chlamydia pneumoniae (IgG IgA)
Chlamydia pneumoniae (PCR)
Chlamydia trachomatis (PCR)
Chloramine T
Chlordiazepoxide
Chlorhexidine
Chloride
Chloride (CSF)
Chloride (puncture fluid)
Chloride (urine 24h)
Chloride (urine)
Chloroquine
Cholesterol
see Total cholesterol
Cholesterol (LDL)
Cholesterol (poncture fluid)
Cholesterol (total)
Cholesterol VLDL (calculated)
Cholic Acid
see Biliary acids
Cholinesterase
Choriogonadotropin
see hCG (total)
Choriogonadotropin
see hCG (total) (tumor marker; testicles)
Chromium (blood)
Chromogranin A
Chub mackerel
Chymopapain
157
150
143
143
139
44
143
155
143
143
154
154
154
148
135
52
52
143
154
52
52
52
52
52
152
52
141
52
53
53
53
53
53
130
53
53
54
54
44
54
80
80
54
54
143
141
Cic
see Circulating immune complexes
54
Ciclosporin
54
Ciculating Anticoagulant
see Lupus Anticoagulant
96
Cinnamon
143
Circulating immune complexes
54
Citalopram
54
Citrate (urine 24h)
55
Citric Acid (Urine 24 H)
see Citrate (urine 24h)
55
Citric Acid/Citrate
see Organic acids
106
Citrulinaded Peptides Antibodies
see Anti-CCP Ab
29
Ck
see Total CK
130
Ck Isoenzymes - Electrophoresis
see Electrophoresis of CK
68
CK, total
55
CK-MB mass
55
Cl
see Chloride
52
Cl (Csf)
see Chloride (CSF)
53
Cl (Puncture Fluid)
see Chloride (puncture fluid)
53
Cl (Urine 24H)
see Chloride (urine 24h)
53
Cl (Urine)
see Chloride (urine)
53
157
Clam
143
Clavulanic acid
141
Clindamycin
55
Clobazam
55
Clom.+ Desmethylclomipramine
55
Clomethiazol (urine)
55
Clomipramine
see Clom.+ Desmethylclomipramine
55
Clomipramine And Metabolyte
55
Clonazepam
55
Clorazepate
56
Clostridium difficile (toxins A+B)
56
Clotting Factor II
56
Clotting Factor IX
56
Clotting Factor V
56
Clotting Factor VII
56
Clotting Factor VIII
56
Clotting Factor X
56
Clotting Factor XI
57
Clotting Factor XII
57
Clotting Factor XIII
57
Clove
143
Clozapine
see Clozapine + Nor.
57
Clozapine + Nor.
57
Clozapine And Metabolytes
57
Cmv Igg
see Cytomegalovirus IgG
64
Cmv Igg
see Cytomegalovirus, presence of
411
Index
Index
Index
Index
412
412
immunity (IgG)
64
Cmv Igg Avidity
see Cytomegalovirus IgG Avidity
64
Cmv Igg Igm
see Cytomegalovirus IgG, IgM
64
Cmv Igm
see Cytomegalovirus IgM
64
Cmv Pcr
see Cytomegalovirus (PCR)
64
Cmv Quantification - Direct Diagnosis Pcr
64
Cn-
see Cyanide
63
Cns Antibodies Screening
29
Co Q10
see Coenzyme Q10
58
Co2
see Bicarbonates
44
Coagulation Factor Ii
see Clotting Factor II
56
Coagulation Factor Ix
56
Coagulation Factor V
see Clotting Factor V
56
Coagulation Factor Vii
see Clotting Factor VII
56
Coagulation Factor Viii
56
Coagulation Factor X
see Clotting Factor X
56
Coagulation Factor Xi
see Clotting Factor XI
57
Coagulation Factor Xii
see Clotting Factor XII
57
Coagulation Factor Xiii
see Clotting Factor XIII
57
Cobalamin
see Vitamin B12 (cobalamin)
135
Cobalt
57
Cobalt (urine)
57
Cobalt Concentration
see Cobalt
57
Cobalt Overload
see Cobalt (urine)
57
Cocaine Screening Urine
67
Cocaine Serum
see Serum cocain (qn)
127
Coccidioides immitis
57
Cochineal extract (Carmine red) (E120)
143
Cocklebur
150
Cockraoft Gault Creatinine Clearence
see Creatinine clearance (Cockroft-Gault formula)
61
Cockroach, American
151
Cockroach, German
151
Cockroach, Oriental
151
Cocksfoot
151
Coconut
143
Cod
see Cod
143
Cod
143
Cod Igg
see Anti-Cod, IgG
148
Codein
see Codein IgE
141
Codein IgE
141
Coenzyme Q10
58
Coffee
143
Coffee Igg
see Anti-Coffee, IgG
148
Cold Agglutinins
58
Coldagglutinins
see Cryoglobulin screening
63
Collagen Type Ii Antibodies
see Anti-collagen type 2 Ab
29
Colllagen N-Telopeptides/Osteomark
see NTx (urine)
105
Colon Epithelium Antibodies
29
Common millet
143
Common ragweed
150
Common reed
151
152
Complement C1 esterase inhibitor, functional
58
Complement C1 Inhibitor
58
58
ponderal
47
Complement C1 inhibitor, mass
58
Complement C1q
58
Complement C2
58
Complement C3
58
Complement C3 C4
58
Complement C4
59
Complement C4d
59
Complement C5
59
Compound F
see Cortisol
59
Conalbumin
143
Conecctin Mgt30 Antibodies
see Anti-titin (connectin MGT30) Ab
39
Confirmation Serology Hiv 1/2
see Immunoblot HIV-1/2
89
Conjugated Bilirrubin
44
Constitutional Kariotype Amniotic Fluid
see Cytogenetic testing
64
Constitutional Kariotype Foetal Blood
64
Constitutional Kariotype Skin Biopsy
64
Constitutional Kariotype Trophoblast
64
Constitutional Kariotype Whole Blood
64
Coombs, direct
59
Copper (serum/plasma)
59
Copper (urine 24)
59
Copper Concentration
see Copper (serum/plasma)
59
Copper Overload
see Copper (urine 24)
59
Coriander
143
Coriander Igg
see Anti-Coriander, IgG
148
Corn
151
Cornea Antbodies
see Anti-Cornea Abs
30
Cortico Adrenal Antibodies
30
Corticostimulin
see ACTH
20
Corticotrophin
see ACTH
20
Cortisol
59
Cortisol (Urine 24H) Free
see Free cortisol (urine 24h)
74
Cortisol Salivary
see Salivary cortisol
124
413
Index
Index
Index
Index
414
414
Cotinin (nicotine)
Cotinin (urine)
Cotton seed
Cottonwood
Cow milk
Cow Milk Igg
see Anti-cow milk Ab
Cow milk, boiled
Cow, albumin
Cow, dander
Cow’s whey
Coxiella Burnetii Fase I, Ii Serology
see Q fever
Coxsachies B (B2-B6)
Coxsackie Virus Pcr
see Enterovirus (PCR)
Cpk
see CK, total
Cpk Isoenzymes - Electrophoresis
see Electrophoresis of CK
Cpk Mb
see CK-MB mass
Cr
see Chromium (blood)
Crab
Cranberry
Crayfish
Creatine
Creatine Kinase Mb Mass
see CK-MB mass
Creatine Kinase Total
see CK, total
Creatine Kinases Isoenzymes - Electrophoresis see Electrophoresis of CK
Creatine Phosphokinase
see CK, total
Creatine Phosphokinase Mb Mass
see CK-MB mass
Creatinine
Creatinine (puncture fluid)
Creatinine (urine 24h)
Creatinine (U-spot)
Creatinine clearance (Cockroft-Gault formula)
Creatinkinase
see Total CK
Crosslaps (urine)
Crosslaps Serum
see Serum crosslaps
Crosslinks Urine
see Deoxypyridinoline (urine)
CRP
Cryofibrinogen
Cryoglobulin
see Cryofibrinogen
Cryoglobulin screening
Cryoprotein
see Cryofibrinogen
Cryoprotein
see Cryoglobulin screening
Cryptococcus (serum Ag)
59
60
157
153
155
144
30
144
154
154
144
121
60
68
55
68
55
54
144
144
144
60
55
55
68
55
55
60
60
60
61
61
61
61
61
130
61
127
65
62
62
62
63
62
63
63
Crystals (puncture fluid)
63
C-Telopeptide Of Type I Procollagen
see Serum crosslaps
127
Ctx
see Beta-CrossLaps (CTx)
43
Ctx (Urine)
see Crosslaps (urine)
62
Ctx Suero
see Serum crosslaps
127
Cu (Serum/Plasma)
see Copper (serum/plasma)
59
Cu (Urine 24 H)
see Copper (urine 24)
59
Cucumber
144
Cultivated Rye
151
Cultivated wheat
151
Curry (Santa Maria)
144
Curvularia lunata
157
Cv2 Antibodies
see Anti-CV2 Ab
30
Cyanide
63
Cyfra 21-1
63
Cystatin C
63
Cysticercosis IgG
63
Cystine
63
Cytogenetic testing
64
Cytomegalovirus (PCR)
64
Cytomegalovirus IgG
64
64
64
Cytomegalovirus IgM
64
Cytomegalovirus, presence of immunity (IgG)
64
Cytoplasma Of Neutrophills Antibodies
Cytoskeleton Antibodies
30
65
D4A
see Delta-4-Androstenedione
Dandelion
150
Dander mix
139
Dao
see Diaminooxidase
66
Daphnia, fish feed
157
Darunavir
65
Date
144
Date tree
155
D-Di
see D-Dimers
65
D-Dimers
65
Deer epithelium
154
Dehydroepiandrosterone Salivary
see Salivary DHEA
125
Dehydroepiandrosterone Sulfate see Dehydroepiandrosterone Sulfate
(DHEA-S)
65
Dehydroepiandrosterone Sulfate (DHEA-S)
65
Delta Virus Serology
see Hepatitis D, Anti HDV Ab
83
Delta-4-Androstenedione
65
Dengue IgG + IgM
65
Density (puncture fluid)
65
415
Index
Index
Index
Index
416
416
Deoxycholic Acid
see Biliary acids
44
Deoxypyridinoline
see Pyridinoline (U-spot)
120
Deoxypyridinoline (urine)
65
152
152
152
Desalkylflurazepam
see Flurazepam
73
Desimipramine
see Imipramine + Des.-
88
Desipramine
66
Desmethyilcomipramine
55
Desoxycorticosterone
18
Desoxycorticosterone 11
see Desoxycorticosterone
18
Dgna
see Digoxin
66
Dha Salivary
see Salivary DHEA
125
Dhas
see Dehydroepiandrosterone Sulfate
(DHEA-S)
65
Dhea Salivary
see Salivary DHEA
125
Dheas
see Dehydroepiandrosterone Sulfate
(DHEA-S)
65
Dht
see Dihydrotestosterone
67
Diaminooxidase
66
Diazepam
66
Dibenzepine
66
Dibucaine number
66
Diclofenac
66
Differential Slide
see Heinz bodies
81
Digitoxin
66
Digoxin
66
Dihydrotestosterone
67
Dill
144
Diphenilhydantoin
see Phenytoin
112
Diphteria
67
Direct Bilirrubin
44
Direct Coombs
see Coombs, direct
59
Direct Coombs
see Blood typing newborn ABO, Rhesus
typins, direct Coombs
45
Disinfectant mix
140
67
Distomatosis Serology
see Distomatosis fasciolosis
67
Dna Polymerase Antibodies
see Anti-DNA polymerase Abs
30
Doca
see Desoxycorticosterone
18
Dog dander
154
Dog Daner Igg
see Anti-Dog dander IgG
153
Dog serum albumin
154
Dopamine
see Catecholamines
51
Douglas fir
155
Doxepine
see Doxepine + Nor.-
67
Doxepine + Nor.-
67
Doxepine And Metabolyte
67
Dpd
65
Drug Resistence Hepatitis B
see HBV Drug Resistance
80
Drug screening (Urine)
67
Duck (feathers)
154
Duloxetin
67
E1
see Estrone
70
E2
see Estradiol
70
E3
see Estriol, total
70
Early Antigen Ebv Igg
see Epstein-Barr virus EA (D+R) IgG
69
Ebv Ea Igg
see Epstein-Barr virus EA (D+R) IgG
69
Ebv Ebna Igg
see Epstein-Barr virus EBNA IgG
69
Ebv Pcr
see Epstein-Barr virus (PCR)
69
Ebv Vca Igg
see Epstein-Barr virus VCA IgG
69
Ebv Vca Igm
see Epstein-Barr virus VCA IgM
70
Echinococcosis Screening Serology
see Echinococcus, screening
67
Echinococcus
152
67
Echovirus Pcr
see Enterovirus (PCR)
68
Ecp
see Eosiniphil cationic protein (ECP)
69
Ecstasy Screening Urine
67
Eel
144
Efavirenz
67
Egg White Igg
see Anti-Eggwhite, IgG
148
Egg Whole Igg
see Anti-Egg, whole, IgG
148
Egg yolk
144
Egg Yolk Igg
see Anti-Egg yolk, IgG
148
Egg, whole
144
Eggplant
144
Eggwhite
144
Elastase Fecal Pancreatic
see Fecal pancreatic elastase
72
Elder
155
Electrophoresis of alkaline phosphatase
68
Electrophoresis of CK
68
Electrophoresis of hemoglobin
68
Electrophoresis of LDH
68
Elements (CSF)
68
Elements (puncture fluid)
68
Elm
155
Ena Antibodies
see Anti-Scl 70 Ab
36
Ena Antibodies
see Anti-Sm Ab
37
Ena Antibodies
see Anti-SSA/Ro Ab
37
417
Index
Index
Index
Index
418
418
Ena Antibodies
see Anti-SSB/La Ab
Ena Antibodies
Endomisium Antibodies
see Anti-endomysium Ab
Enterotoxin A Staphylococcus
see Staphylococcal enterotoxin A
Enterotoxin B Staphylococcus
see Staphylococcal enterotoxin B
Enterotoxin C Staphylococcus
see Staphylococcal enterotoxin C
Enterotoxin D Staphylococcus
see Staphylococcal enterotoxin D
Enterotoxin Tsst Staphylococcus
see Staphylococcal enterotoxin TSST
Enterovirus (PCR)
Enterovirus Antibodies
see Enterovirus (Echo/Coxsackie)
Enterovirus Antibodies
see Coxsachies B (B2-B6)
Eosiniphil cationic protein (ECP)
Epidermal mix
Epinephrine
see Catecholamines
Epo
see EPO, measured
EPO, measured
Epstein Barr Nuclear Antigen Ebv Igg
see Epstein-Barr virus EBNA IgG
Epstein Barr Viral Capside Antigen Igg
see Epstein-Barr virus VCA IgG
Epstein Barr Viral Capside Antigen Igm
see Epstein-Barr virus VCA IgM
Epstein-Barr virus (PCR)
Epstein-Barr Virus Ebna Igg
see Epstein-Barr virus IgG, IgM
Epstein-Barr virus Monotest
Epstein-Barr Virus Vca Igg
Epstein-Barr Virus Vca Igm
Erbb-2
see HER2-Protein
Ergocalciferol
see 25-OH Vitamin D
Erithrocyte Direct Coombs
see Coombs, direct
Erythrocyte antigens
Erythrocyte Folate
see Erythrocyte folate
Erythrocyte folate
Erythrocyte Folic Acid
Erythrocyte magnesium
Erythrocyte Morphology
see Heinz bodies
Erythrocyte Vitamin B9
Erythropoietin
see EPO, measured
Erythropoietin Abs
Erytrocyte Lithium
see RBC lithium
Erytrocyte Magnesium
see Magnesium (erythrocyte)
Erytrocyte Zinc
see Zinc (whole blood)
37
35
30
139
139
139
139
139
68
68
68
60
69
157
140
51
69
69
69
69
70
69
69
69
69
69
69
69
69
69
70
84
19
59
70
70
70
70
70
81
70
69
70
121
97
138
Erytrocyte Zn
see Zinc (whole blood)
Escitalopram
Estradiol
Estradiol Metabolite
see Total estriol
Estradiol Salivary
see Salivary estradiol
Estriol see Total estriol
Estriol, total
Estrone
Ethambutol (urine 24h)
Ethanol (serum)
Ethanol (Urine)
Ethosuximide
Ethyl Alcohol Serum
see Ethanol (serum)
Ethyl Alcohol Urine
see Ethanol (Urine)
Ethylene oxide
Euroglyphus maynei
European ash
European hornet
Everolimus
Exocrine Pancreas Antibodies
see Anti-exocrine pancreas
F-
see Fluoride
Factor Antihaemophilic A
Factor Antihaemophilic B
Factor Hageman
Factor I Activity
see Fibrinogen
Factor Ii - Prothrombin - G20120G>A Mutation see FII-G20210A, prothrombin
Factor Proaccelerin
Factor Proconvertin
Factor Roshental
see Clotting Factor XI
Factor Stuart Power
Factor V Leiden
see FV506Q, factor V Leiden
Factor Willebrand Protease Activity
see Adam TS 13
Faecal Calprotectin
see Calprotectin
Falciformation test
False oat-grass
False ragweed
Fasciola Antibodies
see Distomatosis fasciolosis
Fatty Acid -C22 To C26
see Fatty Acid, Very Long Chain
Fatty Acid, non esterified
Fatty Acid, Very Long Chain
Fcu
see Free cortisol (urine 24h)
Fe
see Iron
Feathers mix
Feathers mix
Fecal pancreatic elastase
138
70
70
130
125
130
70
70
71
71
71
71
71
71
153
155
152
155
152
71
31
73
56
56
57
72
72
56
56
57
56
76
21
49
71
151
150
67
71
71
71
74
90
140
140
72
419
Index
Index
Index
Index
420
420
Felbamate
72
Fennel seed
144
Fennel, fresh
144
Fenugreek
144
Ferret epithelium
154
Ferritin
72
Fetal Hemoglobin
see Hemoglobin F
81
Fibrin Stablising Factor
see Clotting Factor XIII
57
Fibrinogen
72
Fibronectine
74
Fibrotest see FibroTest / ActiTest
72
FibroTest / ActiTest
72
Ficus
153
Fig
144
FII-G20210A, prothrombin
72
72
Filtration Glomerular Cockraoft Gault
see Creatinine clearance (Cockroft-Gault formula)
61
Finch feathers
154
Fire ant
152
Firebush (Kochia)
150
First Trimester Prenatal Screening
see PAPP-A.
109
First Trimester Screening
see Screening 1st trimester (Trisomy 21) (10 3/7, 13 0/7 weeks of pregnancy)
126
Fish Bcr/Abl P190 Gene Rearregement
see BCR ABLP 190 Gene Rearrangement
(FISH)
42
Fishes mix
140
Fishes mix
140
Flavivirus Dengue Fever Igg Igm
see Dengue IgG + IgM
65
Flecainide
73
Flitratin Glomerular Mdrd
see Creatinine clearance (MDRD)
61
Flunitrazepam
73
Fluoride
73
Fluoxetine
73
Flupentixol
73
Flurazepam
73
Fluvoxamine
73
Folate
73
Folate Erythrocyte see Erythrocyte folate
70
Follicle Stimulating Hormone
see FSH
76
Follicle Stimulating Hormone
see Gonadotropins (FSH/LH)
79
Follitropin
see FSH
76
Follitropin
79
Food industry mix
140
Food mix
140
Food mix
140
Food mix
Food mix
Food mix
Food mix
Food mix
Food mix
Food mix
Food screening
Formaldehyde
Formic Acid
see Organic acids
Fox (epithelium)
Foxtail millet
Fractionated porphyrins (urine 24h)
Free Androgen Index
Free Anticoagulant Protein S Antigen
see Protein S, free (Antigen)
Free Beta-hCG
Free Carnitine see Carnitine
Free cortisol (urine 24h)
Free hemoglobin
Free kappa/lambda light chains
Free Light Chains
Free metanephrine
Free Prostate Specific Antigen
see Free PSA
Free Prostate Specific Antigen
see PSA (free)
Free Protein S Antigen
Free Ps Ag
Free Psa
see PSA (free)
Free PSA
Free T3
Free T4
Free testosterone (calculated)
Free Tetraiodothyronine
see Free T4
Free Thyroxine
see Free T4
Free Triiodothyronine
see Free T3
Freezing Point Depression Measurement Serum see Osmolality
Freezing Point Depression Measurement Urine see Osmolality (urine)
Freezing Point Depression Measurement Urine 24H
see Osmolality (Urine 24h)
Fructosamine
Fructose intolerance
Fruit mix
Fruit mix
Fruit mix
Fruit mix
Fruit mix
140
140
140
140
140
140
140
155
153
106
154
144
74
74
74
118
74
51
74
74
75
75
75
75
119
118
118
119
75
75
75
75
75
75
75
106
106
106
75
75
140
140
140
140
140
421
Index
Index
Index
Index
422
422
Fsh
79
FSH
76
Ft3
see Free T3
75
Ft4
see Free T4
75
Functional Fibrinogen Assay
see Fibrinogen
72
Fungus
144
Fungus Igg
see Anti-Fungus, IgG
148
Fusarium proliferatum (F. moniliforme)
157
Fv506Q Mutation
76
FV506Q, factor V Leiden
76
G20210A Mutation
see FII-G20210A, prothrombin
72
G6Pdh
see Glucose-6-phosphate dehydrogenase 78
Gabapentin
76
Gad65 Antibodies
see Anti-GAD II (65kD) Ab
31
Gag Electrophoresis
see Mucopolysaccharides
101
Gag/Creatinine Ratio
101
Galactocerebrosidase
76
Galactokinase
76
Galactomannan
see Ag. Aspergillus (Galactomannane) 22
Galactose-1-phosphate
76
Galactosylceramida
see Galactocerebrosidase
76
Galk see Galactokinase
76
Gamma Glutamyl Transpeptidase
see Gamma-GT
76
Gamma-GT
76
Gamma-tocopherol
77
Ganciclovir
77
Ganglioside Gq1B Antibodies
see Anti-Ganglioside GQ1b IgG, IgM Ab 31
Ganglioside Profile
77
Garlic
144
Garlic Igg
see Anti-Garlic, IgG
148
Gastrin
77
Gbm Antibodies
see Anti-glomerular basal membrane Ab 31
Gelatin, bovine
141
Genotypic Resistence Testing
Of Retrovirals Hiv1
see HIV1 Antiretroviral ther. resistance 85
Genotyping Apolipoprotein E
see Apolipoprotein E, genotyping
40
Gentamicin
77
Gerbil epithelium
154
Gh see Growth hormone (hGH, STH)
79
Giant ragweed
150
Ginger
144
Gldh
see Glutamate-deshydrogénase (GLDH) 78
Gliadin Iga
see Anti-gliadin IgA Ab
31
Gliadin Igg
see Anti-gliadin IgG Ab
31
Glibenclamide
77
Glomerular Basal Membrane Antibodies
Glucagon
Glucocorticoid
see Cortisol
Glucose
Glucose (CSF)
Glucose (puncture fluid)
Glucose (urine 24h)
Glucose, urine
Glucose-6-phosphate dehydrogenase
Glutamate-deshydrogénase (GLDH)
Glutamic Oxaloacetic Transaminase see ASAT (GOT)
Glutamic-Pyruvic Transaminase
see ALAT (GPT)
Glutathione
Glutathione reductase
Gluten
Gluten Iga
see Anti-gliadin IgA Ab
Gluten Igg
see Anti-gluten, IgG
Gluten Igg
see Anti-gliadin IgG Ab
Gluten intolerance
Glutethimide
Glycated hemoglobin, HbA1c
Glycosamineglycanes Electrophoresis
Goat epithelium
Goat milk
Goat Milk Igg
see Anti-Goat milk, IgG
Goblet cell Abs
Goldenrod
Gonadotropin Fsh
see FSH
Gonadotropins (FSH/LH)
Gonococcus
see Neisseria gonorrhoeae (FC)
Gonococcus Pcr
see Neisseria gonorrhoeae (PCR)
Goose feathers
Goosefoot (lamb’s quarters)
Got
see ASAT (GOT)
Gpt
see ALAT (GPT)
Grain weevil
Grape
Grape Igg
see Anti-Grape IgG
Grapefruit
Grass Pollen mix
Grass Pollen mix
Grass Pollen mix
Green bean
Green coffee bean
Green nimitti
77
59
78
78
78
78
78
78
78
41
22
78
79
144
31
148
31
79
79
79
101
152
154
144
148
79
150
76
79
103
103
154
150
41
22
152
144
148
144
140
140
140
144
153
152
144
423
Index
Index
Index
Index
424
424
Greer laboratory
142
Grey alder
155
Growth hormone (hGH, STH)
79
Guanidinoacetic acid structure
79
Guar gum (E412)
144
Guava
144
154
Gum arabic (E414)
144
H Biotin
see Biotin
44
Haemoglobin Abnormalities - Electrophoresis
see Electrophoresis of hemoglobin
68
Haemoglobin Abnormalities - Electrophoresis
see Hemoglobin F
81
Haemoglobin Free
see Free hemoglobin
74
Haemoglobin Isoforms - Electrophoresis
see Electrophoresis of hemoglobin
68
Haemoglobin Isoforms - Electrophoresis
see Hemoglobin F
81
Haemopexin
79
Haemophillus Antibodies
see Anti-haemophilus Ab
32
Haemorrhagic Fever
With Renal Syndrome - Serology
see Hantavirus IgG, IgM
80
Haemosiderin
80
Hageman
57
140
Hake
144
Halibut
144
Haloperidol
80
Hamster epithelium
154
Hantavirus IgG, IgM
80
Haptoglobin
80
Hav Igg
see Hepatitis A, immunity (IgG)
82
Hav Igm
see Hepatitis A, IgM
81
Hazel
156
Hazelnut
144
Hazelnut Igg
see Anti-Hazelnut, IgG
148
Hba1C
see Glycated hemoglobin, HbA1c
79
Hba1C
see HbA1c (Glycated hemoglobin)
80
HbA1c (Glycated hemoglobin)
80
Hbco
see Carboxyhemoglobin
50
Hbe Antigen, Vhb
see Hepatitis B, Hbe Ag
83
Hbs Antigen, Vhb see Hepatitis B, HBs Ag
83
Hbsag
20
Hbsag
20
HBV Drug Resistance
80
Hbv Genotype
see Hepatitis B Genotype
82
Hbv Quantitative Determination - Load Viral
see Hepatitis B DNA (PCR)
82
Hbv, Hbe Antigen
see Hepatitis B, Hbe Ag
83
Hbv, Anti Hbc Antibodies
see Hepatitis B, Anti-HBc Ab
82
Hbv, Anti Hbc Igg
see Hepatitis B, Anti-HBc IgM Ab
82
Hbv, Anti Hbe Antibodies
see Hepatitis B, Anti-HBe Ab
82
Hbv, Anti Hbs Antibodies
see Hepatitis B, Anti-HBs Ab
82
Hbv, Full Serology
see Hepatitis B, full serology
82
Hbv, Hbs Antigen
see Hepatitis B, HBs Ag
83
Hbv, Screening (Aghbs, Anti-Hbc, Anti-Hbs)
see Hepatitis B, screening (AgHBs, Anti-
HBc, Anti-HBs)
83
Hcg - Free Beta Subunit
see Beta-hCG (free)
43
see Free Beta-hCG
74
80
hCG (free beta-hCG)
80
hCG (total)
80
hCG (total) (tumor marker; testicles)
130
Hcg -Free Beta Chain
see Beta-hCG (free)
43
see Free Beta-hCG
74
80
Hcg Whole Molecula
see Total HCG
130
Hcg Whole Molecula
see Total HCG (tumor marker; testicles)130
Hcg Whole Molecule
see hCG (total)
80
Hcg Whole Molecule
see hCG (total) (tumor marker; testicles) 80
Hco2-
see Bicarbonates
44
Hcv Antibodies
see Hepatitis C, Anti-HCV Ab
83
Hcv Genotype
see Hepatitis C genotype
83
Hcv, Inmunoblot - Confirmation Test
see Hepatitis C, Immunoblot
(confirmation test)
83
Hcv, Quantitative Determination - Load Viral
see Hepatitis C RNA (RT-PCR)
Hda
30
Hdl
see HDL cholesterol
80
Hdl Cholesterol
see HDL cholesterol
80
Hdl cholesterol
80
Hdv , Quantitative Determination - Load Viral
see Hepatitis D, viral RNA (PCR)
84
Hdv Antibodies
see Hepatitis D, Anti HDV Ab
83
Heinz bodies
81
Helicobacter pylori (Stool Ag)
81
Helicobacter pylori IgG
81
Hematocrit (puncture fluid)
81
Hemoglobin (puncture fluid)
81
Hemoglobin F
81
Hemoglobin Hba1C Fraction
see Glycated hemoglobin, HbA1c
79
Hemoglobin Hba1C Fraction
see HbA1c (Glycated hemoglobin)
80
Hemolytic Complement Activity
see CH50 (haemolytic complement)
51
Heparin
141
Heparin-induced thrombocytopenia abs
81
Hepatic Cytosol Antibodies
see Anti-hepatic cytosol Ab
32
Hepatitis A, IgM
81
Hepatitis A, immunity (IgG)
82
Hepatitis B - Drug Resistencia see HBV Drug Resistance
80
425
Index
Index
Index
Index
426
426
Hepatitis B DNA (PCR)
82
Hepatitis B Genotype
82
Hepatitis B, Anti-Hbc Ab
HBc, Anti-HBs)
83
82
82
82
Hepatitis B, Anti-Hbs Ab
HBc, Anti-HBs)
83
82
Hepatitis B, full serology
82
Hepatitis B, Hbe Ag
83
Hepatitis B, Hbs Ag
HBc, Anti-HBs)
83
Hepatitis B, HBs Ag
83
Hepatitis B, screening
(AgHBs, anti-HBc, anti-HBs)
83
Hepatitis C genotype
83
Hepatitis C RNA (RT-PCR)
83
83
Hepatitis C, Immunoblot (confirmation test)
83
83
Hepatitis D, viral RNA (PCR)
83
Hepatitis E (IgG, IgM)
84
Her2/Neu
see HER2-Protein
84
HER2-Protein
84
Hereditary Fructose Intolerance
see Fructose intolerance
85
84
Herpes simplex 1+2, (PCR)
84
84
Herpes virus 6 (PCR)
84
Herpes virus 6 IgG
84
Herpes virus 6 IgM
85
Herring
145
Heterophile Antibodies
see Epstein-Barr virus Monotest
69
Hev, Igg Igm
see Hepatitis E (IgG, IgM)
84
153
Hexoaminidase
85
Hexokinase
85
Hfsr Serology
see Hantavirus IgG, IgM
80
Hg
see Mercury
99
Hg- Hair see Mercury (hair)
99
Hg- Urine
see Mercury (urine 24h)
99
Hgh
see Growth hormone (hGH, STH)
79
Hiaa 5
19
Hickory (pecan)
156
High Risk Hpv Pcr
see Papillomavirus high oncogenic risk (PCR)109
High-Density Lipoprotein Cholesterol
see HDL cholesterol
80
Hippurate
see Hippuric acid
85
Hippuric Acid
see Methyl hippuric acid
99
Hippuric Acid
see PAH (Para-amino hippuric acid)
108
Hippuric acid
85
Histamine
85
Histolasmosis Serology
see Histoplasma capsulatum
85
Histones Antibodies
see Anti-histones Ab
32
Histoplasma capsulatum
85
Hiv 1/2 Confirmation Serology
89
Hiv 1/2 Immunoblot
89
HIV1 Antigen (p24)
85
HIV1 antiretroviral ther. resistance
85
HIV1 RNA (Real-time PCR)
85
Hiv1 Viral Load Rna
see HIV1 RNA (Real-time PCR)
85
HLA B27 (PCR)
86
Hla B27 Antigen
see HLA B27 (PCR)
86
Hla B27 Genotyping
see HLA B27 (PCR)
86
Hla B27 Leukocyte And Platelet Antigens
see HLA B27 (PCR)
86
Hla B27 Typing
see HLA B27 (PCR)
86
Hla B27 Whole Blood
see HLA B27 (PCR)
86
Hollister-Stier laboratory
142
Holotcii
see Holotranscobalamin (active B12)
86
Holotranscobalamin (active B12)
86
Homocystein
86
Homocysteinaemia
see Homocystein
86
Homocysteinuria
see Homocystein
86
Homogentisic acid
86
Homovanilate
86
Homovanilic Acid
86
Honey
145
Hop (fruit cone)
145
Horn beam
156
Horse chestnut
156
Horse dander
154
Horse meat
145
Horse serum albumin
154
Horsefly
152
Horsefly
152
140
140
House Dust Mite
152
House dust mix
140
Hpv Oncogenes
Hr-Hpv Pcr
427
Index
Index
Index
Index
428
428
Hsv 1+2 Igg Igm
see Herpes simplex 1+2 (IgG, IgM)
84
Hsv 1+2 Pcr - Direct Diagnosis
see Herpes simplex 1+2, (PCR)
84
Hsv 6 Igg see Herpes virus 6 IgG
84
Hsv 6 Igg Igm
see Herpes virus 6 (IgG, IgM)
84
Hsv 6 Igm
see Herpes virus 6 IgM
85
Hsv 6 Pcr - Direct Diagnosis
see Herpes virus 6 (PCR)
84
Htg
see Thyroglobulin (TRACE)
129
Htlv1/Htlv2 Antibodies
see Anti-HTLV1 / HTLV2
32
Hu Antibodies
see Anti-Hu Ab
32
Human Chorionic Gonadotropin
see Total HCG
130
see Total HCG (tumor marker; testicles)130
see hCG (total)
80
see hCG (total) (tumor marker; testicles) 80
Human Epidermal Growth Factor Receptor 2
see HER2-Protein
84
Human IgA Abs
86
Hva
86
HVA (homovanillic acid)
86
Hyalurinodase Antibodies
see Anti-hyaluronidase
32
Hyaluronate
see Hyaluronic acid
86
Hyaluronic acid
86
Hydrogen Peroxide
see Peroxide
111
Hydroxybutyric Dehydrogenase
see Alpha-HBDH (hydroxybutyric
dehydrogenase)
24
Hydroxychloroquine
87
Hydroxyzine
87
Hypolactasia
see Lactose intolerance
92
Hypothalamus Abs
87
I (Urine 24H)
see Iodine (Urine 24h)
90
I Serum
see Serum Iodine
127
Ia2 Antibodies
see Anti-IA2 Ab
32
Ica
see Anti-islets of Langerhans Ab (IF)
33
Iep-Lcr
see Protein electrophoresis (CSF)
117
Iep-Serum
see Protein electrophoresis
117
Iep-Serum
see Protein immunoelectrophoresis
118
Iep-Urine see Protein immunoelectrophoresis (urine)118
Iep-Urine see Proteinuria - Differentiation (urine)119
IFN gamma
87
Ig E Mix
see Mix
155
Ig E Stemphylium Herbarum
see Stemphylium herbarum
158
Iga
see Human IgA Abs
86
IgA
87
IgD
87
Ige
see Total IgE
131
Ige Abachi Wood Dust
see Abachi wood dust
152
Ige Abalone
see Abalone
142
Ige Acacia Mimosa (Golden Wattle)
see Acacia mimosa (golden wattle)
155
Ige Acarus Siro (Storage Mite)
Ige Acid Alpha-1-Glycoprotein
Ige Alkalase
Ige Allspice
Ige Almond
Ige Alpha-1-Acid-Glycoprotein
Ige Alpha-1-Seromucoid
Ige Alpha-Lactalbumin
Ige Alternaria Alternata
Ige Amaranth
Ige Ambrosia Psilostachya
Ige American Beech
Ige Amoxiciline
Ige Ampicillin Ige Anchovy
Ige Anisakis
Ige Anise
Ige Anthoxanthum Odoratum
Ige Api M 1 (Bee, Recomb.)
Ige Apple
Ige Apricot
Ige Artemia Salina, Fish Feed
Ige Ascaris
Ige Asparagus
Ige Aspergillus Flavus
Ige Aspergillus Fumigatus
Ige Aspergillus Niger
Ige Aspergillus Terreus
Ige Atriplex Lentiformis
Ige Aureobasidium Pullulans
Ige Australian Pine
Ige Avocado
Ige Bahia Grass
Ige Bamboo Shoot
Ige Banana
Ige Barley
Ige Barley (Pollen)
Ige Basil
Ige Bay Leaf
Ige Bee
Ige Beef
Ige Beet
Ige Bent Grass (Agrostis Tenuis)
Ige Berlin Beetle
Ige Bermuda Grass
Ige Beta-Lactoglobulin
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Orosomucoid
Alkalase
Allspice
Almond
Orosomucoid
Orosomucoid
Alpha-lactalbumin
Amaranth
Western ragweed
American beech
Amoxicillin
Ampicillin IgE
Anchovy
Anisakis
Anise
Sweet vernal grass
Apple
Apricot
Ascaris
Asparagus
Lenscale
Australian pine
Avocado
Bahia grass
Bamboo shoot
Banana
Barley
Barley (pollen)
Basil
Bay leaf
Bee
Beef
Beet
Berlin beetle
Bermuda grass
Beta-lactoglobulin
152
106
152
142
142
106
106
142
157
150
150
155
26
141
142
152
142
151
152
142
142
156
152
142
157
157
157
157
150
157
155
142
150
142
142
142
150
142
142
151
142
142
150
151
150
142
429
Index
Index
Index
Index
430
430
Ige Birch (Common Silver)
Ige Bird Feathers Mix
Ige Black Pepper
Ige Blackberry
Ige Blackcurrant
Ige Blood Worm
Ige Blue Mussel
Ige Blue Vetch
Ige Blueberry
Ige Botrytis Cinerea
Ige Bougaivillea
Ige Bovine Lactoferrin
Ige Brazil Nut
Ige Broccoli
Ige Brome Grass
Ige Bromelin, Pineapple
Ige Brussels Sprouts
Ige Buckwhest
Ige Budgerigar Droppings
Ige Budgerigar Feathers
Ige Budgerigar Serum Proteins
Ige Bumblebee
Ige Cabbage
Ige Cacao
Ige Canary Bird (Excrements)
Ige Canary Bird (Feathers)
Ige Canary Grass
Ige Candida Albicans
Ige Carambola
Ige Caraway
Ige Cardamon
Ige Carob
Ige Carrot
Ige Casein Milk
Ige Cashew Nut
Ige Castor Bean
Ige Cat Dander
Ige Cat Serum Albumin
Ige Cauliflower
Ige Cedar
Ige Cefaclor
Ige Celery
Ige Cephalosporium Acremonium
Ige Cereal Mix
Ige Chaetomium Globosum
Ige Chamomilla
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Bird feathers mix
Black pepper
Blackberry
Blackcurrant
Blood worm
Blue mussel
Blue vetch
Blueberry
Botrytis cinerea
Bougaivillea
Bovine lactoferrin
Brazil nut
Broccoli
Brome grass
Bromelin, pineapple
Brussels sprouts
Buckwheat
Budgerigar feathers
Bumblebee
Cabbage
Cacao
Canary grass
Candida albicans
Carambola
Caraway
Cardamon
Carob
Carrot
Casein, Milk
Cashew nut
Castor bean
Cat dander
Cat serum albumin
Cauliflower
Cedar
Celery
Cereal mix
Chaetomium globosum
Chamomilla
155
139
142
142
142
151
142
143
143
157
152
143
143
143
150
152
143
143
153
153
154
151
143
143
154
154
151
157
143
143
143
143
143
143
143
152
154
154
143
155
141
143
157
139
157
150
Ige Cheese, Cheddar Type
Ige Cheese, Mold Type
Ige Chemical Industry Mix
Ige Cherry
Ige Chestnut
Ige Chick Pea
Ige Chicken
Ige Chicken Droppings
Ige Chicken Feathers
Ige Chicken Serum Proteins
Ige Child Food
Ige Chilipepper
Ige Chinchilla Epithelium
Ige Chloramine T
Ige Chub Mackerel
Ige Chymopapain
Ige Cinnamon
Ige Cladosporium Herbarum
Ige Clam
Ige Clavulanic Acid
Ige Clove
Ige Cochineal Extract
Ige Cocklebur
Ige Cockroach American
Ige Cockroach German
Ige Cockroach Oriental
Ige Cocksfoot
Ige Coconut
Ige Coffee
Ige Common Millet
Ige Common Ragweed
Ige Common Reed
Ige Common Wasp
Ige Conalbumin
Ige Coriander
Ige Corn
Ige Cotton Crude Fibers
Ige Cotton Seed
Ige Cottonwood
Ige Cow Albumin
Ige Cow Dander
Ige Cow Milk
Ige Cow Milk Boiled
Ige Cow´S Whey
Ige Crab
Ige Cranberry
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
143
Cheese, mold type
143
139
Cherry
143
Chestnut
155
Chick pea
143
Chicken
143
Chicken droppings
154
Chicken feathers
154
154
Child food
52
Chilipepper
143
154
Chloramine T
152
Chub mackerel
143
Chymopapain
141
Cinnamon
143
157
Clam
143
Clavulanic acid
141
Clove
143
Cochineal extract (Carmine red) (E120) 143
Cocklebur
150
Cockroach, American
151
Cockroach, German
151
Cockroach, Oriental
151
Cocksfoot
151
Coconut
143
Coffee
143
Common millet
143
Common ragweed
150
Common reed
151
152
Conalbumin
143
Coriander
143
Corn
151
157
Cotton seed
153
Cottonwood
155
Cow, albumin
154
Cow, dander
154
Cow milk
144
Cow milk, boiled
144
Cow’s whey
144
Crab
144
Cranberry
144
431
Index
Index
Index
Index
432
432
Ige Crayfish
Ige Cucumber
Ige Cultivated Rye
Ige Cultivated Wheat
Ige Curry (Sanra Maria)
Ige Curvularioa Lunata
Ige Cypress Italian/Mediterranean/Funeral
Ige Dandelion
Ige Dander Mix
Ige Daphnia, Fish Feed
Ige Date
Ige Date Tree
Ige Deer Epithelium
Ige Dermatoph. Microceras
Ige Dermatoph. Pteronyssinus
Ige Dermatophagoides Farinae
Ige Dill
Ige Disinfectant Mix
Ige Dog Dander
Ige Dolichovespula Maculata
Ige Douglas Fir
Ige Duck (Feathers)
Ige Echinococcus
Ige Eel
Ige Egg Whole
Ige Egg Yolk
Ige Eggplant
Ige Eggwhite
Ige Elder
Ige Elm
Ige Epidermal Mix
Ige Epioccum Purpurascens
Ige Ethylene Oxide
Ige Eucalyptus
Ige Euroglyphus Maynei
Ige European Ash
Ige European Hornet
Ige False Oat-Grass
Ige False Ragweed
Ige Fealthers Mix
Ige Feathers Mix
Ige Fennel Fresh
Ige Fennel Seed
Ige Fenugreek
Ige Ferret Epithelium
Ige Ficus
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Crayfish
144
Cucumber
144
Cultivated Rye
151
Cultivated wheat
151
Curry (Santa Maria)
144
Curvularia lunata
157
Italian/Mediterranean/Funeral cypress156
Dandelion
150
Dander mix
139
Daphnia, fish feed
157
Date
144
Date tree
155
Deer epithelium
154
152
152
152
Dill
144
Disinfectant mix
140
Dog dander
154
White-faced hornet
152
Douglas fir
155
Duck (feathers)
154
Echinococcus
152
Eel
144
Egg, whole
144
Egg yolk
144
Eggplant
144
Eggwhite
144
Elder
155
Elm
155
Epidermal mix
140
157
Ethylene oxide
153
153
Euroglyphus maynei
152
European ash
155
European hornet
152
False oat-grass
151
False ragweed
150
Feathers mix
140
Feathers mix
140
Fennel, fresh
144
Fennel seed
144
Fenugreek
144
Ferret epithelium
154
Ficus
153
Ige Fig
Ige Finch Feathers
Ige Fire Ant
Ige Firebush (Kochia)
Ige Fishes Mix
Ige Fishes Mix
Ige Food Industry Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Mix
Ige Food Screening
Ige Formaldehyde
Ige Fox (Epithelium)
Ige Foxtail Millet
Ige Fraxinus Americana
Ige Fruit Mix
Ige Fruit Mix
Ige Fruit Mix
Ige Fruit Mix
Ige Fruit Mix
Ige Fungus
Ige Fusarium Proliferatum (F. Moniliforme)
Ige Garlic
Ige Gelatin Bovine
Ige Gerbil Epithelium
Ige Giant Ragweed
Ige Ginger
Ige Gluten
Ige Glycyphagus Domesticus
Ige Goat Epithelium
Ige Goat Milk
Ige Goldenrod
Ige Goose Feathers
Ige Goosefoot (Lamb´S Quarters)
Ige Grain Weevil
Ige Grape
Ige Grapefruit
Ige Grass Pollen Mix
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Fig
144
Finch feathers
154
Fire ant
152
Firebush (Kochia)
150
Fishes mix
140
Fishes mix
140
Food industry mix
140
Food mix
140
Food mix
140
Food mix
140
Food mix
140
Food mix
140
Food mix
140
Food mix
140
Food mix
140
Food mix
140
Food screening
155
Formaldehyde
153
Fox (epithelium)
154
Foxtail millet
144
White ash
156
Fruit mix
140
Fruit mix
140
Fruit mix
140
Fruit mix
140
Fruit mix
140
Fungus
144
Fusarium proliferatum (F. moniliforme) 157
Garlic
144
Gelatin, bovine
141
Gerbil epithelium
154
Giant ragweed
150
Ginger
144
Gluten
144
152
Goat epithelium
154
Goat milk
144
Goldenrod
150
Goose feathers
154
Goosefoot (lamb’s quarters)
150
Grain weevil
152
Grape
144
Grapefruit
144
Grass Pollen mix
140
Grass Pollen mix
140
Grass Pollen mix
140
433
Index
Index
Index
Index
434
434
Ige Green Bean
Ige Green Coffee Bean
Ige Green Nimitti
Ige Green Pepper (Unripe Seed)Ç
Ige Greer Laboratory
Ige Grey Older
Ige Guar Gun (E412)
Ige Guava
Ige Guinea Pig Epithelium
Ige Gum Arabic (E414)
Ige Hairs And Feathers Mix
Ige Hake
Ige Halibut
Ige Hamster Epithelium
Ige Hazel
Ige Hazelnut
Ige Heparin
Ige Herring
Ige Hexahydrophtalic Anhydride
Ige Hickory (Pecan)
Ige Holcus Lanatus
Ige Honey
Ige Horn Beam
Ige Horse Chestnut
Ige Horse Dander
Ige Horse Meat
Ige Horse Serum Albumin
Ige Horsefly
Ige Horsefly
Ige House Dust And Insect Mix
Ige House Dust And Insect Mix
Ige House Dust Mite
Ige House Dust Mix
Ige Insulin, Bovine
Ige Insulin, Human
Ige Insulin, Porcine
Ige Isocianate Mdi
Ige Isocianate Tdi
Ige Isocyanate Hdi
Ige Ispaghula
Ige Jack Fruit
Ige Jack Mackerel, Scad
Ige Japanese Cedar
Ige Japanese Millet
Ige Johnson Grass
Ige Jujube
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Green bean
Green coffee bean
Green nimitti
Greer laboratory
Grey alder
Guar gum (E412)
Guava
Gum arabic (E414)
Hake
Halibut
Hamster epithelium
Hazel
Hazelnut
Heparin
Herring
Hickory (pecan)
Velvet grass
Honey
Horn beam
Horse chestnut
Horse dander
Horse meat
Horse serum albumin
Horsefly
Horsefly
House Dust Mite
House dust mix
Insulin, bovine
Insulin, human
Insulin, porcine
Isocyanate MDI
Isocyanate TDI
Isocyanate HDI
Ispaghula
Jack fruit
Jack mackerel, Scad
Japanese cedar
Japanese millet
Johnson grass
Jujube
144
153
152
144
142
155
144
144
154
144
140
144
144
154
156
144
141
145
153
156
151
145
156
156
154
145
154
152
152
140
140
152
140
142
142
142
153
153
153
153
145
145
156
145
151
145
Ige Kiwi
Ige Langust
Ige Latex
Ige Lavender
Ige Lemon
Ige Lentil
Ige Lepidoglyphus Destructor
Ige Lettuce
Ige Lilac
Ige Lime
Ige Linden
Ige Linseed
Ige Liquidambar
Ige Litchee
Ige Lobster
Ige Lovage
Ige Lupin
Ige Lupin Seed
Ige Macadamia Nut
Ige Mace
Ige Mackerel
Ige Maize/Corn
Ige Malassezia Furfur
Ige Maleic Anhydride
Ige Malt
Ige Mango
Ige Maple
Ige Maple Leaf Sycamore
Ige Mare’S Milk
Ige Marguerite
Ige Maxatase
Ige Meadow Fescue
Ige Meadow Foxtail
Ige Meadow Grass
Ige Mealworm
Ige Meat Mix
Ige Meat Mix
Ige Mediteranean Tree Mix
Ige Mediteranean Tree Mix
Ige Mediterranean Flour Moth (Ephestia)
Ige Megrim
Ige Melaleuca
Ige Melange De Fruits
Ige Melon Ige Methyltetrahydrophtalic Anhydride
Ige Milk Powder Alfare®-Nestle®
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Kiwi
Langust
Latex
Lavender
Lemon
Lentil
Lettuce
Lilac
Lime
Linden
Linseed
Liquidambar
Litchi
Lobster
Lovage
Lupin
Lupin seed
Macadamia nut
Mace
Mackerel
Maize/corn
Malassezia furfur
Maleic anhydride
Malt
Mango
Maple
Maple leaf sycamore
Mare’s milk
Maxatase
Meadow fescue
Meadow Foxtail
Meadow grass
Mealworm
Meat mix
Meat mix
Megrim
Melaleuca
Fruit mix
Melon
145
145
153
150
145
145
152
145
156
145
156
145
156
145
145
145
150
145
145
145
145
145
157
153
145
145
156
156
145
150
153
151
151
151
157
140
140
140
140
152
145
156
140
145
153
145
435
Index
Index
Index
Index
436
436
Ige Mink Epithelia
Ige Mint
Ige Mold Mix
Ige Mold Mix
Ige Moose Meat
Ige Mosquito
Ige Moth
Ige Mountain Juniper
Ige Mouse
Ige Mouse (Epithelia)
Ige Mouse (Serum Proteins)
Ige Mouse (Serum Proteins)
Ige Mucor Racemosus
Ige Mugwort
Ige Mulberry
Ige Mustard
Ige Mutton
Ige Namb A 1 Ragweed (Recombinant)
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Mink (epithelia)
Mint
Mold mix
Mold mix
Moose meat
Mosquito
Moth
Mountain Juniper
Mouse
Mouse (epithelia)
Mucor racemosus
Mugwort
Mulberry
Mustard
Mutton
154
145
157
157
145
152
152
156
154
154
154
154
157
150
156
145
145
150
Ige Nart V 1 Mugwort (Recombinant)
Ige Nettle
Ige Nole E 1 Olive, Recombinant
Ige Nuez De Pecan
Ige Nut Mix
Ige Nut Mix
Ige Nutmeg
Ige Oak
Ige Oat
Ige Oat
Ige Octopus
Ige Olive
Ige Olive (Black, Fresh)
Ige Onion
Ige Orange
Ige Oregano
Ige Origanum Majorana
Ige Ovalbumin
Ige Ox-Eye Daisy
Ige Oyster
Ige Pacific Squid
Ige Palm Tree
Ige Paloverde
Ige Papain
Ige Papaya
Ige Paper Wasp (Poliste)
Ige Parietaria Judaica
Ige Parietaria Officinalis
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Nettle
Pecan nut
Nut mix
Nut mix
Nutmeg
Oak
Oat
Oat
Octopus
Olive
Onion
Orange
Oregano
Marjoram
Ovalbumin
Oyster
Pacific squid
Palm tree
Paloverde
Papain
Papaya
150
150
156
146
140
140
146
156
146
151
146
156
146
146
146
146
145
146
150
146
146
156
156
153
146
152
150
150
Ige Parrot Feathers
Ige Parsley
Ige Passion Fruit
Ige Pea
Ige Peach
Ige Peanut
Ige Pear
Ige Peniciline G
Ige Peniciline V
Ige Penicillium Chrysogenum
Ige Penicillium Glabrum
Ige Pepsin
Ige Perannual Mix
Ige Persimmon
Ige Phleum Pratense
Ige Phoma Betae
Ige Phtalic Anhydride
Ige Pig Epitelium
Ige Pig Serum Albumin
Ige Pig Urine Proteins
Ige Pigeon Droppings
Ige Pigeon Feathers
Ige Pilchard
Ige Pine
Ige Pine Nut
Ige Pineapple
Ige Pinus Strobus
Ige Pistachio
Ige Plaice
Ige Plant Mix
Ige Plant Mix
Ige Plant Mix
Ige Plant Mix
Ige Plant Mix
Ige Plant Mix
Ige Plum
Ige Polen Mix
Ige Polen Mix
Ige Poppy Seed
Ige Pork
Ige Potato
Ige Potato
Ige Privet
Ige Prosopis
Ige Pumpkin
Ige Pumpkin Seed
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Parrot feathers
Parsley
Passion fruit
Pea
Peach
Peanut
Pear
Penicilline G
Penicilline V
Penicillium glabrum
Pepsin
Perannual mix
Timothy grass
Phoma betae
Phtalic anhydride
Pig epithelium
Pig serum albumin
Pig urine proteins
Pigeon droppings
Pigeon feathers
Sardine (pilchard)
Pine
Pine nut
Pineapple
White pine
Pistachio
Plaice
Plant mix
Plant mix
Plant mix
Plant mix
Plant mix
Plant mix
Plum
Pollen mix
Pollen mix
Poppy seed
Pork
Potato
Sweet potato
Privet
Prosopis
Pumpkin
Pumpkin seed
154
146
146
146
146
146
146
142
142
157
157
153
155
146
151
157
153
154
154
154
154
155
147
156
146
146
156
146
146
141
141
141
141
141
141
146
155
155
146
146
146
147
156
156
146
146
437
Index
Index
Index
Index
438
438
Ige Quercus Virginiana
see
Ige Quinoa
see
Ige Rabbit Epithelia
see
Ige Rabbit Meat
see
Ige Rabbit Serum Proteins
see
Ige Rabbit Urinary Proteins
see
Ige Radish
see
Ige Rainbow Trout
see
Ige Ralt A 1 (Recombinant)
see
Ige Rape
see
Ige Rape Seed
see
Ige Rasp F 1 (Recombinant)
see
see
see
see
see
Ige Raspberry
see
Ige Rat Ephitelium
see
Ige Rat Ephitelium Serum And Urine
see
Ige Rat Serum Proteins
see
Ige Rat Urine Proteins
see
Ige Rbet V 1 Pr-10, Birch Pollen, Recombinant see
Ige Rbet V 2 Profilin, Birch Pollen, Recombinant see
Ige Rbet V 2, Rbet V 4 Birch Pollen, Recombinant see
Ige Rbet V 4 Birch Pollen, Recombinant
see
Ige Red Beans
see
Ige Red Currant
see
Ige Reindeer Epithelium
see
Ige Respiratory Allergy
see
Ige Respiratory Screening
see
Ige Rhev B 1 (Latex, Recomb.)
see
see
see
Ige Rhev B 5
see
Ige Rhev B 6.01
see
Ige Rhev B 6.02 (Latex, Recomb.)
see
Ige Rhev B 8, Profiline (Latex, Recomb.)
see
see
Ige Rhizopus Nigricans
see
Ige Ribwort Plantain
see
Ige Rice
see
Ige Rodent Epithelia Mix
see
Ige Rose Hip
see
Virginia live oak
156
Quinoa
146
Rabbit (epithelia)
155
Rabbit meat
146
155
155
Radish
146
Rainbow trout
146
157
Rape
150
Rape seed
147
157
157
157
157
157
Raspberry
147
Rat epithelium
155
Rat epithelium, serum and urine 155
Rat serum proteins
155
Rat urine proteins
155
156
156
156
rBet v 4 Birch pollen, recombinant 156
Red bean
147
Red currant
147
155
Respiratory allergy
155
155
153
153
153
rHev b 5
153
rHev b 6.01
153
153
rHev b 8, profiline (Latex, recomb.) 153
153
Rhizopus nigricans
157
150
Rice
147
141
Rose hip
147
Ige Rough Marshelder
Ige Rpar J 2 (Recombinant)
Ige Rphl P 1 (Thimoty)
Ige Rphl P 1, Rphl P 5B (Thimoty)
Ige Rphl P 11 (Thimoty)
Ige Rphl P 12 , Profilin (Thimothy)
Ige Rphl P 2 (Thimothy)
Ige Rphl P 5B (Thimothy)
Ige Rphl P 7
Ige Rphl P 7, Rphl P 12 (Thimothy)
Ige Rtri A 19 Omega-5 Gliadin, Wheat
Ige Rves V 5 (Wesp, Recomb.)
Ige Rye
Ige Rye-Grass
Ige Saffron
Ige Sage
Ige Salmon
Ige Saltgrass
Ige Saltwort
Ige Savinase
Ige Scallop
Ige Seasonal Mix
Ige Seminal Fluid
Ige Serum Albumin
Ige Sesame Seed
Ige Setomelanomma Rostrata
Ige Sheep Epithelium
Ige Sheep Milk
Ige Sheep Sorrel
Ige Sheep Whey
Ige Shrimp
Ige Silk
Ige Silk Waste
Ige Snail
Ige Sodium Sulfite
Ige Sole
Ige Soya Bean
Ige Spelt Wheat
Ige Spice Mix
Ige Spice Mix
Ige Spice Mix
Ige Spice Mix
Ige Spinach
Ige Spruce
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Rough marshelder
rPhl p 1 (Thimoty)
rPhl p 11 (Thimoty)
rPhl p 2 (Thimothy)
rPhl p 4 (Thimothy)
rPhl p 6 (Thimothy)
rPhl p 7
Rye
Rye-grass
Saffron
Sage
Salmon
Salt grass
Saltwort
Savinase
Scallop
Seasonal mix
Seminal fluid
Dog serum albumin
Sesame seed
Sheep (epithelium)
Sheep milk
Sheep sorrel
Sheep whey
Shrimp
Silk
Silk waste
Snail
Sodium sulfite
Sole
Soya bean
Spelt wheat
Spice mix
Spice mix
Spice mix
Spice mix
Spinach
Spruce
150
150
151
151
151
151
151
151
151
151
151
151
147
152
147
151
147
147
147
151
150
153
147
155
157
154
147
158
155
147
150
147
147
153
153
147
148
147
147
147
141
141
141
141
147
156
439
Index
Index
Index
Index
440
440
Ige Squid
Ige Strawberry
Ige Sugar Beet
Ige Sugar Beet Seeds
Ige Sulfamethoxazol
Ige Sunflower
Ige Sunflower Seeds
Ige Suxamethonium
Ige Sweet Chestnut
Ige Sweet Pepper
Ige Swordfish
Ige Tangerine
Ige Tea
Ige Tetanus Toxoid
Ige Tetramine
Ige Thuja
Ige Thyme
Ige Tilletia Tritici
Ige Tobacco Leaf
Ige Tomato
Ige Tragacanth (E413)
Ige Tree Mix
Ige Tree Mix
Ige Tree Mix
Ige Tree Mix
Ige Tree Mix
Ige Tree Mix
Ige Tree Mix
Ige Trichoderma Viride
Ige Trichophyton Ment. Goetzii Var
Ige Trichophyton Ment. Interdigitalis Var
Ige Trichophyton Rubrum
Ige Trichosporon Pullulans
Ige Trimelitic Anhydride
Ige Trimethoprime
Ige Tropical Fruit Mix
Ige Tuna
Ige Turkey Feathers
Ige Turkey Meat
Ige Tyrophagus Putrescentiae
Ige Ulocladium Chartarum
Ige Vanilla
Ige Vegetable Mix
Ige Vegetable Mix
Ige Vegetable Mix
Ige Vegetable Mix
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
see
Squid
147
Strawberry
147
Sugar beet
150
Sugar beet (seed)
147
Sulfamethoxazol
142
Sunflower
150
Sunflower seed
153
Suxamethonium
142
Sweet chestnut
147
146
Swordfish
147
Mandarine (tangerine)
145
Tea
147
Tetanus toxoid
142
Tetramine
157
Thuja
156
Thyme
147
Tilletia tritici
158
Tobacco leaf
157
Tomato
147
Tragacanth (E413)
147
Tree mix
141
Tree mix
141
Tree mix
141
Tree mix
141
Tree mix
141
Tree mix
141
Tree mix
141
Trichoderma viride
158
158
Trichophyton ment. interdigitalis var158
Trichophyton rubrum
158
158
153
Trimethoprime
152
Tropical fruit mix
141
Tuna
147
Turkey feathers
155
Turkey meat
147
152
158
Vanilla
147
Vegetable mix
141
Vegetable mix
141
Vegetable mix
141
Vegetable mix
141
Ige Vegetable Mix
see Vegetable mix
141
Ige Vespula Maculifrons
see Yellow hornet
152
Ige Walnut
see Walnut
148
Ige Walnut Pollen
see Walnut pollen
156
Ige Watermelon
see Watermelon
148
Ige Weed Mix
see w1, w2, w3 ( weed mix)
141
Ige Wheat
see Wheat
148
Ige White Bean
see White bean
148
Ige Willow
see Willow
156
Ige Wormwood (Absinthe)
see Wormwood (absinthe)
150
Ige Yeast
see Yeast
148
Ige Zucchini
see Zucchini
148
IgE, total
87
Ige: Inhalant Allergen Test
see Phadiatop (Inhalation Screen)
155
Ige: Screening Allergen Test Pediatrique
see Phadiatop pédiatrique
155
Igemandarine
see Mandarine (tangerine)
145
Igepeppertree
see Peppertree
156
Igf 1
see IGF-1 (somatomedin C)
87
IGF-1 (somatomedin C)
87
IGF-binding protein 3
88
Igf-Bp3
see IGF-binding protein 3
88
IgG
88
IgG IgA IgM
88
IgG subclasses
88
Igg1 Subclasses
see IgG subclasses
88
Igg2 Subclasses
see IgG subclasses
88
Igg3 Subclasses
see IgG subclasses
88
Igg4 Subclasses
see IgG subclasses
88
IgM
88
IL-1 alpha
88
IL-1 beta
88
IL-2
88
Il-2 Soluble Receptor
see Interleukin 2, soluble receptor
89
Il-6
see Interleukin 6
90
Imipramine
88
Imipramine + Des.-
88
Imipramine And Metabolytes
88
Immune Complex
see Circulating immune complexes
54
Immuno reactive trypsin
89
Immunobinding Urine see Protein electrophoresis by
immunofixation (urine)
118
Immunobinding Urine 24H
see Protein electrophoresis by
immunofixation (urine 24h)
118
Immunoblot Hcv Confirmatory Test
(confirmation test)
83
Immunoblot Hepatitis C - Confirmatory Test
441
Index
Index
Index
Index
442
442
(confirmation test)
83
Immunoblot Hiv 1/2
89
Immunoblot HIV-1/2
89
Immunoblot Igg Borrelia Sp
see Borrelia sp. Immunoblot IgG
46
Immunoelctrophoresis Urine
see Proteinuria - Differentiation (urine)119
Immunoelectrophoresis
118
Immunoelectrophoresis Urien see Protein immunoelectrophoresis (urine)118
Immunoelectrophoresis Urine 24H
see Protein immunoelectrophoresis (urine 24h)
118
Immunofixation Urine 24H
118
Immunofixation Urine
118
Immunoglobulin A
see IgA
87
Immunoglobulin A
see Human IgA Abs
86
Immunoglobulin A
see IgG IgA IgM
88
Immunoglobulin D
see IgD
87
Immunoglobulin E
see IgE, total
87
Immunoglobulin G
see IgG
88
Immunoglobulin G
see IgG IgA IgM
88
Immunoglobulin Igg Subclasses
see IgG subclasses
88
Immunoglobulin M
see IgM
88
Immunoglobulin M
see IgG IgA IgM
88
Immunoglobulins
see IgG IgA IgM
88
Indinavir
89
Influenza A, B
89
Inhibin B
89
Inmunoblot Igm Borrelia So
see Borrelia sp. Immunoblot IgM
46
Inmunoelectrophoresis (Csf)
117
Inmunoelectrophoresis Serum
117
Insulin
89
Insulin Antibodies
see Anti-human insulin Ab
32
89
Insulin, bovine
142
Insulin, human
142
Insulin, porcine
142
Insulinaemia
see Insulin
89
Insuline Like Growth Factor 1
87
Insuline Like Growth Factor Binding Protein 3
see IGF-binding protein 3
88
Intact N-Terminal Propeptide Of Type I
see P1NP (Procollagen 1 N-terminal
Procollagen peptide)
107
Intact Parathormone
see Parathormone (intact)
110
Intactprocollagen Type I (N-Propeptide)
see P1NP (Procollagen 1 N-terminal peptide)107
Interferon Gamma
see IFN gamma
87
Interferon Gamma Production
see M. Tuberculosis (QuAntiFERON Gold) 96
Interleukin 1 Alpha
see IL-1 alpha
88
Interleukin 1 Beta
see IL-1 beta
88
Interleukin 2
see IL-2
88
Interleukin 2, soluble receptor
89
Interleukin 6
90
Intrinsec Factor Antibodies
see Anti-intrinsic factor Ab
32
Iodine (Urine 24h)
90
Iodine Serum
see Serum Iodine
127
Ioduria
see Iodine (Urine 24h)
90
Ionized calcium
90
Iron
90
Irregular Allo Antibodies
45
Irregular Antibodies see Blood typing ABO, Rhesus typing, irregular allo Ab
45
Islets Of Langerhams Antibodies
see Anti-islets of Langerhans Ab (IF)
33
Isocyanate HDI
153
Isocyanate MDI
153
Isocyanate TDI
153
Isoniazid
90
Ispaghula
153
Italian/Mediterranean/Funeral cypress
156
Itraconazole + Met.
91
Itraconazole And Metabolyte
see Itraconazole + Met.
91
Jack fruit
145
Jack mackerel, Scad
145
Japan B encephalitis Abs
91
Japanese cedar
156
Japanese millet
145
Jo Q Antibodies
see Anti-Jo 1 Ab
33
Johnson grass
145
Jujube
145
K
see Potassium
114
K Urine 24H
see Potassium (urine 24h)
114
Kappa Bence Jones
75
Kappa Bence Jones (Urine 24H)
Kappa Bence Jones (Urine) see Kappa/lambda light chains (urine) 91
Kappa Free Light Chains
75
Kappa Light Chains (Urine 24H)
Kappa Light Chains (Urine)
Kappa/lambda light chains (urine 24h)
91
Kappa/lambda light chains (urine)
91
Karyotipe
64
Kell
see Kell Antigen
91
Kell antigen
91
Kell-Cellano System
see Kell Antigen
91
Ketone bodies
91
443
Index
Index
Index
Index
444
444
Ketone bodies (urine)
91
Kiwi
145
Kiwi Igg
see Anti-kiwi, IgG
148
Kleihauer Test
see Kleihauer test (fetal Hb)
91
Kleihauer test (fetal Hb)
91
Kleihauer–Betke (“Kb”) Stain
see Kleihauer test (fetal Hb)
91
L.S.D
92
Lactase Deficiency
see Lactose intolerance
92
Lactate
92
Lactate (CSF)
92
Lactate (puncture fluid)
92
Lactate Dehydrogenase
see LDH
92
Lactate Dehydrogenase-Csf
see LDH (CSF)
92
Lactate Dehydrogenase-Puncture Fluid
see LDH (puncture fluid)
93
Isoenzymes - Electrophoresis
see Electrophoresis of LDH
68
Lactic Ácid
see Lactate
92
Lactic Acid/Lactate
see Organic acids
106
Lactic Ácid-Csf
see Lactate (CSF)
92
Lactic Ácid-Puncture Fluid
see Lactate (puncture fluid)
92
Lactic Dehydrogenase
see LDH
92
Lactic Dehydrogenase-Csf
see LDH (CSF)
92
Lactic Dehydrogenase-Puncture Fluid
93
Isoenzymes - Electrophoresis
68
Lactoferrin Antibodies
33
Lactose intolerance
92
Lambda Bence Jones
75
Lambda Bence Jones (Urine 24H)
Lambda Bence Jones (Urine)
Lambda Free Light Chains
75
Lambda Light Chains (Urine 24H)
Lambda Light Chains (Urine)
Lamotrigine
92
Langust
145
Latex
153
Lavender
150
Ldh
see LDH
92
LDH
92
LDH (CSF)
92
LDH (puncture fluid)
93
Ldh Isoenzymes - Electrophoresis
68
Ldh-Csf
see LDH (CSF)
92
Ldh-Puncture Fluid
93
Ldl
see Cholesterol (LDL)
53
Ldl Cholesterol
53
LDL Cholesterol
53
Ldl/Ldl-C
see LDL Cholesterol
93
L-dopa
93
Lead
93
Lead (Urine 24h)
93
Lead Concentration
see Lead
93
Lead Concentration-Urine see Lead (Urine 24h)
93
Lead Overload
see Lead
93
Lead Overload-Urine
see Lead (Urine 24h)
93
Legionella (antigen)
93
Legionella Pneumophila- Serology
Legionella pneumophila (IgG, IgM)
93
Legionella pneumophila (PCR)
93
Legionella Pneumophila Antigen Urine
see Legionella (Antigen)
93
Legionella Pneumophila-Pcr
see Legionella pneumophila (PCR)
93
Screening Serology
Legionellosis-Lp1 Antigen-Urine
see Legionella (Antigen)
93
Legionelosis-Direct Diagnosis-Pcr
see Legionella pneumophila (PCR)
93
Leishmaniasis Serology
see Visceral leishmaniosis Ig
135
Lemon
145
Lenscale
150
Lentil
145
Lentil Igg
see Anti-Lentil, IgG
149
152
Leptin
94
Leptospirosis
94
Leptospirosis-9 Antigens-Martin-Pettit
see Leptospirosis
94
Leptospirosis-Serology
see Leptospirosis
94
Lettuce
145
Levetiracetam
94
Levodopa
see L-dopa
93
Levomepromazine
94
Lh
79
LH
94
LH (urine)
94
Li
see Lithium
95
Lidocaine
94
Li-Erytrocytes
see RBC lithium
121
Light Chains (Urine 24H)
Light Chains (Urine)
Lilac
156
Lime
145
Linden
156
Linseed
145
Lipase
94
Lipase (puncture fluid)
95
Lipase Activity
see Lipase
94
Lipase Concentration
see Lipase
94
445
Index
Index
Index
Index
446
446
Lipoprotein (a)
Lipoprotein Electrophoresis
Lipoprotein Lp A-I
see Lipoprotein (a)
Lipoprotein Lp(A)
see Lipoprotein (a)
Lipoprotein X
Lipoproteinogram
see Lipoprotein Electrophoresis
Liquidambar
Listeria
Listeria Monocytogenes-Serology
see Listeria
Litchi
Lithium
Lithium Erytrocytes
see RBC lithium
Liver Kidney Microsomal Abs
see Anti-LKM Ab
Liver-Kidney-Microsomal Antibodies
see Anti-LKM Ab
Lkm Antibodies
see Anti-LKM Ab
Lobster
Lopinavir
Lorazepam
Lovage
Low Density Lipoprotein
see LDL Cholesterol
Low Density Lipoprotein Cholesterol
see LDL Cholesterol
Low-Density Lipoprotein Cholesterol
Lp(X)
see Lipoprotein X
Lpa-I Lipoprotein
see Lipoprotein (a)
Lupin
Lupin seed
Lupin Seed Igg
see Anti-Lupin seed, IgG
Lupus anticoagulant
Luteinising Hormone
see LH
Luteinising Hormone
Luteinising Hormone-Urine
see LH (urine)
Lutrophin
see LH
Lutrophin-Urine
see LH (urine)
Lutropin
see LH
Lutropin
Lutropin-Urine
see LH (urine)
Lyme disease
Lymphocyte Phenotyping
see Lymphocyte typing (CD3, CD4, CD8)
Lymphocyte Proliferation Typing
see Lymphocyte typing (CD3, CD4, CD8)
Lymphocyte typing (CD3, CD4, CD8)
Lysergic Acid Diethylamide
see L.S.D
Lysozyme
Lysozyme
Lysozyme (urine)
Lysylpiridinium
Lythocholic Acid
see Biliary acids
95
95
95
95
95
95
156
95
95
145
95
121
33
33
33
145
95
95
145
93
93
53
95
95
150
145
149
96
94
79
94
94
94
94
79
94
96
96
96
96
92
96
96
96
65
44
M. Tuberculosis (QuantiFERON Gold)
M. Tuberculosis (T Spot TB)
M2 Antibodies
M2-PK
Ma1 Antibodies
see Anti-Ma1 Ab
Ma2 Antibodies
see Anti-Ma2 Ab
Macadamia nut
Mace
Mackerel
Macro creatinine kinase
Macro GOT
Macro Lipase
Macro-Ck
see Macro creatinine kinase
Macroglobulin Alpha 2
see Alpha-2 macroglobulin
Macro-Got
see Macro GOT
Macro-Lps
see Macro Lipase
Macro-Prl
see Macro-prolactin
Macro-prolactin
Mag Igm
see Anti-MAG IgM
Magnesium
Magnesium (erythrocyte)
Magnesium (Urine 24h)
Magnesium (urine)
Magnesium Concentration
see Magnesium
Magnesium Erythrocyte see Erythrocyte magnesium
Magnesium Urine see Magnesium (Urine 24h)
Magnesium Urine Concentration
see Magnesium (urine)
Maize/corn
Maize/Corn Igg
see Anti-Maize/corn, IgG
Malaria abs
Malaria Screening
see P. falciparum Ag screening
Malaria Species Identification Whole Blood
see Parasites in blood (Malaria)
Malassezia furfur
Maleic anhydride
Malondialdehyde
Malt
Mandarine (tangerine)
Manganese (blood)
Mango
Mannane (Candida) Antigen
see Candida (Mannane) Ag (EIA)
Manual Differential
see Heinz bodies
Maple
Maple leaf sycamore
Maprotiline
Mare’s milk
Marjoram
96
96
34
96
33
33
145
145
145
97
97
97
97
24
97
97
97
97
33
97
97
97
97
97
70
97
97
145
149
98
107
110
157
153
98
145
145
98
145
50
81
156
156
98
145
150
145
447
Index
Index
Index
Index
448
448
Martin And Pettit
Agglutinattion/Microagglutination
see Leptospirosis
94
Maxatase
153
Mb
see Myoglobin
102
Mb Urine
see Myoglobin
102
Mda
see Malondialdehyde
98
Mdrd Creatinine Clearence
see Creatinine clearance (MDRD)
61
Meadow fescue
151
Meadow Foxtail
151
Meadow grass
151
Mealworm
157
Measles (IgG, IgM)
98
Measles Serology
see Measles (IgG, IgM)
98
Measles, immunity (IgG)
98
Meat mix
140
Meat mix
140
140
140
152
Mefenamic acid
98
Megrim
145
Melaleuca
156
Fruit mix
140
Melitracen
98
Melon
145
Melon Igg
see Anti-Melon IgG
149
Mephenytoin
98
Mercury
99
Mercury (hair)
99
Mercury (urine 24h)
99
Metadrenaline
see Free metanephrine
75
Metadrenaline/Normetadrenaline
104
Metanephrine
see Metanephrines
99
Metanephrine see Free metanephrine
75
Metanephrines
99
Methadone
see R,S-Methadone
121
Methadone
99
Methadone Screening Urine
67
Methaqualone
99
Methotrexate
99
Methoxylate Derivatives Of Catecholamines
see Metanephrines
99
Methoxylate Derivatives Of Catecholamines
104
Methyl hippuric acid
99
Methyl mercury
100
Methylimidazole-Acetic Acid
see 1.4-Methylimidazol acetic acid
18
Methylmalonic Acid
100
Methylphenidate
Metoprolol
Mexitil
Mg
see Magnesium
Mg Erythrocyte see Erythrocyte magnesium
Mg-Rbc
see Magnesium (erythrocyte)
Miaa
see 1.4-Methylimidazol acetic acid
Mianserin
see Mianserine + Desm.-
Mianserine + Desm.-
Microglobulin Beta 2
see Beta-2 microglobulin
Microglobulin Beta 2 (Urine)
see Beta-2 microglobulin (Urine)
Midazolam
Mink (epithelia)
Mint
Mirtazapine
Mistellectin IgG 1-4 abs
Mitochondria Antibodies
see Anti-mitochondria Ab
Mitochondria M2 Antibodies
Mix
Mn
see Manganese (blood)
Mo see Molybdenum (plasma)
Mo Urine
see Molybdenum (Urine)
Moclobemide
Mold mix
Mold mix
Molybdenum (plasma)
Molybdenum (Urine)
Moose meat
Morphine
see Opiates
Morphine
Mosquito
Moth
Mountain Juniper
Mouse
Mouse (epithelia)
Mouth mucosa abs
Mucopolysaccharides
Mucor racemosus
Mugwort
Mulberry
Mullerian-Inhibiting Substance
see Antimüllerian hormon (AMH)
Mumps (IgG, IgM)
100
153
100
100
97
70
97
18
100
100
43
43
100
145
154
145
100
101
33
34
155
98
101
101
101
157
157
101
101
145
105
101
152
152
152
154
154
154
154
154
101
157
150
156
34
101
449
Index
Index
Index
Index
450
450
Mumps, immunity (IgG)
101
Muscle Biopsy
170
Musk Antibodies
see Anti-MuSK Ab
34
Mustard
145
Mustard Igg
see Anti-Mustard, IgG
149
Mutation Fv506Q
76
Mutation P-Arg506Gln
76
Mutton
145
Mycobacteria (culture and direct examination)
102
Mycobacterium tuberculosis complex (PCR)
102
Mycophenolate
102
Mycophenolate Mofetil
see Mycophenolate
102
Mycophenolic acid
102
Mycoplasma pneumoniae Ig
102
Mycoplasma Pneumoniae Serology
see Mycoplasma pneumoniae Ig
102
Myelin Antibodies
see Anti-myelin Ab
34
Myelin Associated Glycoprotein Antibodies see Anti-MAG IgM
33
Myeloperoxidase Antibodies
34
Myocard Antibodies
see Anti-myocard Ab
34
Myoglobin
102
Myoglobin
102
Myosin abs
102
Myositis Markers Antibodies
38
Na Urine 24H
see Sodium (urine 24h)
127
N-acetyl-glucosaminidase
103
Nag
see N-acetyl-glucosaminidase
103
150
150
Native Dna Antibodies
see Anti-native DNA Ab
34
Natriuretic Peptide
see BNP (Brain Natriuretic Peptide)
45
N-Desmethyl-mesuximide
103
Neisseria gonorrhoeae (FC)
103
Neisseria gonorrhoeae (PCR)
103
Nelfinavir
103
Neonatal screening
103
Neopterin
103
Netilmicine
103
Nettle
150
Neuroendothelial Abs
104
Neurofilaments Abs
104
Neuron Specific Enolase
see NSE
105
Neutrophillic Cytoplasmic Antibodies see Anti-neutrophilic cytoplasmic Ab
(ANCA)
35
Névirapine
104
Nh4+
see Ammonium
26
Ni Plasma
see Nickel (plasma)
104
Ni Urine
see Nickel (Urine)
104
Niacin
see Thiamin PP
135
Niacin
see Vitamin PP (niacin)
136
Niacin
104
Nickel (plasma)
104
Nickel (Urine)
104
Nicotine
see Cotinin (nicotine)
59
Nicotine (Urine)
see Cotinin (urine)
60
Nicotine Metabolyte
59
Nicotine Metabolyte Urine
see Cotinin (urine)
60
Nitrazepam
104
156
Nor-/Metanephrine
104
Noradrenaline
see Catecholamines
51
Norclozapine
57
Nordazepam
see Diazepam
66
Nordoxepine
67
Norepinephrine
see Catecholamines
51
Normetadrenaline
75
Normetanephrine
75
Normetanephrine
see Metanephrines
99
Nortryptilin
104
Nse
see NSE
105
NSE
105
N-Telopeptides
see NTx (urine)
105
N-Telopeptides Of Type I Collagen
see NTx (urine)
105
N-Terminal Peptide Of Procollagen Type I
see P1NP (Procollagen 1 N-terminal peptide)107
N-Terminal Pro-Brain Natriuretic Peptide
see NT-proBNP
105
N-Terminal-Pro-Brain Natriuretic Peptide
see Pro-BNP
115
NT-proBNP
105
NTx (urine)
105
Nuclear Antibodies
see Anti-nuclear Ab (ANA)
35
Nucleoprotein Antibodies
35
Nucleosome Antibodies
see Anti-nucleosome Ab
35
Nut mix
140
Nut mix
140
Nutmeg
146
Oak
156
Oat
146
Oat
146
Oat Igg
see Anti-Oat, IgG
149
Ob Protein
see Leptin
94
Octopus
146
Oestradiol
see Estradiol
70
Oestradiol Salivary
see Salivary estradiol
125
Oestriol
see Estriol, total
70
451
Index
Index
Index
Index
452
452
Oestrogens
see Estradiol
Oestrone
see Estrone
Olanzapine
Oligoclonal binding
Oligosaccharides
Olive
Onion
Onion Igg
see Anti-Onion, IgG
Opiates
see Morphine
Opiates
Opiates Screening Urine
Opipramol
Orange
Orange Igg
see Anti-Orange, IgG
Oregano
Organic acids
Organic Ácids
see Lactate
Organic Acids Urine 24H
see Oxalate (urine 24h)
Orosomucoid
Orosomucoid
Orotic acid
Osmolality
Osmolality (Urine 24h)
Osmolality (urine)
Osteocalcin
Osteoporosis screening
Ovalbumin
Ovarian Antibodies
see Anti-ovarian Ab
Oxalate (urine 24h)
Oxalic Acid Urine 24H
Oxaluria Urine 24H
Oxazepam
Oxazepam see Diazepam
Oxcarbazepine
Oxycodone
Oxyhemoglobin
Oyster
P
see Progesterone
P. falciparum Ag screening
P1NP (Procollagen 1 N-terminal peptide)
p24 Ag/anti-HIV 1+2 Ab (4th gen.)
P24 Antigen Hiv1
see HIV1 Antigen (p24)
P53 Abs
Pacific squid
PAH (Para-amino hippuric acid)
70
70
105
105
105
156
146
146
149
101
105
67
105
146
149
146
106
92
107
146
106
106
106
106
106
106
107
146
35
107
107
107
107
66
107
107
107
146
116
107
107
108
85
108
146
108
Paha
108
Paliperidone
108
Palladium
108
Palm tree
156
Paloverde
156
P-Amino-Hippuric Acid
108
P-Anca
see ANCA
27
P-Anca
Pancreatic amylase
108
Pancreatic amylase (puncture fluid)
108
Pancreatic amylase (urine)
108
Pancreatic duct epithelial Abs
108
Pancreatic fraction
109
Pancreatic polypeptide
109
Pantothenate
109
Pantothenic Acid
see Vitamin B5 (pantothenate)
135
PAP test
109
Papain
153
Papaya
146
152
Papillomavirus high oncogenic risk (PCR)
109
PAPP-A.
109
146
Paprika Igg
see Anti-Paprika (sweet pepper) IgG 149
Paracetamol
see Phenacetin (Paracetamol)
111
Paracetamol
109
Parainfluenza 1, 2, 3
109
Parainfluenza Virus 1,2,3 Serology
see Parainfluenza 1, 2, 3
109
110
Parathormone
110
Parathormone (intact)
110
Parathormone Related Peptide
see PTH-related protein
120
Parathormone Relates Protein
120
Parathyroid Abs
110
Parathyroid Hormone
110
Parathyroid tissue Abs
110
P-Arg506Gln Mutation
76
Parietal Cells Antibodies
see Anti-parietal cells Ab
35
Paroxetine
110
Parrot feathers
154
Parrot Fever Serology
see Chlamydia psittaci (IgG IgA)
52
Parsley
146
Parvovirus B19 (IgG, IgM)
110
Parvovirus B19 (PCR)
110
Parvovirus B19 IgG (EIA)
110
Passion fruit
146
453
Index
Index
Index
Index
454
454
Paul Bunnell
see Epstein-Barr virus Monotest
69
Pb
see Lead
93
Pbg Urine
see Porphobilinogen (urine)
114
Pb-Urine
see Lead (Urine 24h)
93
Pc Activity
see Protein C (activity)
117
Pc Antigen
see Protein C (Antigen)
117
Pche
20
Pche
see Cholinesterase
54
Pcp
see Phencyclidine
111
Pcr Adenovirus
21
Pcr Apc
21
Pcr Chlamydea Trachomatis
see Chlamydia trachomatis (PCR)
52
Pcr Chlamydia Pneumoniae see Chlamydia pneumoniae (PCR)
52
Pcr Cmv
64
Pcr/Sequencing Fructose Intolerance
see Fructose intolerance
85
Pcr/Sequencing Gluten Intolerance
see Gluten intolerance
79
Pct
see Procalcitonin (quAntitative)
116
Pd Urine
see Palladium
108
Pea
146
Peach
146
Peach Igg
see Anti-Peach, IgG
149
Peanut
146
Peanut Igg
see Anti-Peanut, IgG
149
Pear
146
Pear Igg
see Anti-Pear, IgG
149
Pecan Igg
see Anti-Pecan nut, IgG
149
Pecan nut
146
Penicilline G
142
Penicilline V
142
157
Penicillium glabrum
157
Pentachlorophenol
111
Peppertree
156
Pepsin
153
Peptide C
see C peptide
60
Peptide N-Terminal Of Type I Procollagen
see Procollagen 1 N-terminal peptide 116
Peptides From Bone Collagen Degradation see Beta-CrossLaps (CTx)
43
Peptides From Bone Collagen Degradation (Urine) see Crosslaps (urine)
62
Peptides Of Type Iii Procollagen
see Procollagen lll
116
Perannual mix
155
Perazine
111
Peroxide
111
Perphenazine
111
146
Pertussis Immunity Igg
see Bordetella pertussis, immunity (IgG) 46
Pertussis Serology Iga
see Bordetella pertussis IgA
46
Pertussis Serology Igg
see Bordetella pertussis IgG
46
Pertussis Serology Igg+Iga
see Bordetella pertussis (IgG, IgA)
46
Pf4 Antibodies
see Heparin-induced thrombocytopenia abs 81
pH (puncture fluid)
111
Phadiatop (Inhalation Screen)
155
Phadiatop pédiatrique
155
Phenacetin (Paracetamol)
111
Phencyclidine
111
Phenobarbital
111
Phenol
111
Phenyl mercapturic acid
112
Phenytoin
112
Phoma betae
157
Phosphate (urine 24h)
112
Phosphates
112
Phosphates (urine)
112
Phosphatidylserine Abs
112
Phospholipase
153
PhosphoTau
112
Phospho-Tau Protein
see PhosphoTau
112
Phtalic anhydride
153
Phyllomenadione
see Vitamin K1 (phylloquinone)
136
Phylloquinone
see Vitamin K1 (phylloquinone)
136
Phylloquinone
112
Phytanate
112
Phytanic Acid
see Phytanate
112
Picornavirus Antibodies
see Coxsachies B (B2-B6)
60
Picornavirus I,Ii,Iii Serology
113
Pig epithelium
154
Pig serum albumin
154
Pig urine proteins
154
Pigeon droppings
154
Pigeon feathers
155
Pilchard Igg
see Anti-Sardine (pilchard), IgG
149
Pine
156
Pine nut
146
Pineapple
146
Pineapple Igg
see Anti-Pineapple, IgG
149
Pipamperone
113
Pistachio
146
Pistachio Igg
see Anti-Pistachio, IgG
149
Pituitary Abs
113
Pk
see Pyruvate kinase
121
Pkm2
see M2-PK
96
Plaice
146
Plant mix
141
455
Index
Index
Index
Index
456
456
Plasma Silver
Plasminogen
Plasmodium Species Identification Whole Blood see
Platelet Antibodies
see
Platinum (plasma)
Plg
see
Plum
Pneumococcal Antibodies
see
Pneumocystis jiroveci (carinii) (PCR)
Pneumocystis Pneumonie Pcr
see
Poliovirus I, II, III
Pollen mix
Pollen mix
Polyoma BK-virus
Polyomavirus Bk Dna Pcr
see
Poppy seed
Pork
Pork Igg
see
Porphobilinogen deaminase
Porphyrin Precursors see
Porphyrin profile (urine 24h)
Porphyrins Faeces
see
Porphyrins Spot Urine
see
Porphyrins Urine 24H
see
Porphyrins Urine 24H
see
Porphyris Urine see
Potassium
Potassium (urine 24h)
Potassium Channels Antibodies
see
Potato
Potato Igg
see
Ppz
see
Prealbumin
Pregabaline
Pregnancy test (urine)
Pregnancy-Associated Plasma Protein-A see
Pregnandiol
Pregnanediol Glucuronide
see
Pregnanetriol
Prenatal Screening
see
Prenatal Screening
see
Prickle cell desmosomes Abs
Primidone
Privet
113
113
110
Anti-platelet Ab
35
113
Plasminogen
113
146
36
113
Pneumocystis jiroveci (carinii) (PCR) 113
113
155
155
114
Polyoma BK-virus
114
146
146
Anti-Pork, IgG
149
114
114
114
114
114
114
74
Fractionated porphyrins (urine 24h) 74
Total urinary porphyrin (urine 24h) 131
Porphyrin profile (urine 24h)
114
114
114
36
146
Anti-Potato, IgG
149
Zinc protoporphyrin
138
115
115
115
PAPP-A.
109
115
Pregnandiol
115
115
Neonatal screening
103
PAPP-A.
109
115
115
156
Prl
see Prolactin
116
Proaccelerin
56
Pro-BNP
115
Pro-Brain Natriuretic Peptide
see Pro-BNP
115
Pro-Brain Natriuretic Peptide
see NT-proBNP
105
Procainamide/N-acetylprocainamide
116
Procalcitonin (quantitative)
116
Procollagen 1 N-terminal peptide
116
Procollagen lll
116
Proconvertin
56
Progesterone
116
Progesterone Salivary
see Salivary progesterone
125
Proinsulin
116
Prolactin
116
Promazine
116
Propafenone
117
Propoxyphen
117
Propranolol
117
Propylphenazone
117
Prosopis
156
Prostate Specific Antigen Free
see Free PSA
75
Prostate-Specific Antigen Free
see PSA (free)
119
Prostate-Specific Antigen Total
see PSA
119
Prostatic Acid Phosphatase Test
see PAP test
109
Protamine
142
Protein C (activity)
117
Protein C (antigen)
117
Protein Electroforesis Urine 24H
(urine 24h)
118
Protein Electrophoresis
118
Protein Electrophoresis see Protein profile
118
Protein electrophoresis (CSF)
117
Protein electrophoresis by immunofixation (urine 24h)
118
by immunofixation (urine)
118
Protein Electrophoresis Urine
see Protein immunoelectrophoresis (urine)118
Protein Electrophoresis Urine
see Proteinuria - Differentiation (urine)119
Protein immunoelectrophoresis
118
Protein immunoelectrophoresis (urine 24h)
118
Protein immunoelectrophoresis (urine)
118
Protein Immunofixation Urine
118
Protein Immunofixation Urine 24H
118
457
Index
Index
Index
Index
458
458
Protein Inmunoelectrophoresis
117
Protein Inmunoelectrophoresis (Csf)
117
Protein profile
118
Protein S, free (antigen)
118
Protein S, total (antigen)
119
Protein S100
see S 100 protein
124
Proteinase 3 Antibodies
see Anti-proteinase 3 Ab
36
Proteinogram see Protein profile
118
Proteins
see Total proteins
131
Proteins (CSF)
119
Proteins (puncture fluid)
119
Proteins (urine 24h)
119
Proteins Urine
see Total proteins (urine)
131
Proteinuria - Differentiation (urine)
119
Prothrombin Activity
see Clotting Factor II
56
Prothrombin Mutation
see FII-G20210A, prothrombin
72
Prothrombin Time
”International Normalizated Ratio”
see PT-INR
120
Provitamin A
see Beta Carotene
43
Ps-100
see S 100 protein
124
PSA
119
PSA (free)
119
PSA Screening
120
Psa/Psat
see PSA
119
P-Salivary
see Salivary progesterone
125
Pseudocholinesterase
20
Pseudocholinesterase
see Cholinesterase
54
Psitaccosis Serology
see Chlamydia psittaci (IgG IgA)
52
Pt
see Platinum (plasma)
113
Pth-Related Peptide
120
PTH-related protein
120
PT-INR
120
PTT
120
Ptu
see Pregnanetriol
115
Pumpkin
146
Pumpkin seed
146
Pyridinoline (U-spot)
120
Pyridinolines
65
Pyridoxal
see Pyridoxal-P
120
Pyridoxal Phosphate
see Vitamin B6 (pyridoxal-P)
136
Pyridoxal Phosphate
see Pyridoxal-P
120
Pyridoxal-P
120
Pyridoxamine
136
Pyridoxine
136
Pyrimidinecarboxylic Acid
see Orotic acid
106
Pyruvate
120
Pyruvate kinase
121
Pyruvate Kinase Type M2
see M2-PK
96
Pyruvic Acid
see Pyruvate
120
Q fever
121
Quantiferon Test
see M. Tuberculosis (QuAntiFERON Gold) 96
Quetiapine
121
Quinidine
121
Quinine
121
Quinoa
146
R,S-Methadone
121
Rabbit (epithelia)
155
155
155
Rabbit Igg
see Anti-Rabbit, IgG
149
Rabbit meat
146
Rabies Antibodies see Anti-rabies Ab
36
Radish
146
Rainbow trout
146
157
Rape
150
Rape seed
147
152
157
157
157
157
157
Raspberry
147
Rat epithelium
155
Rat epithelium, serum and urine 155
Rat serum proteins
155
Rat urine proteins
155
Ratio Apoa1/Apob
see Apolipoprotein A-1, B
40
RBC lithium
121
156
156
156
rBet v 4 Birch pollen, recombinant
156
Rbp
see Retinol binding protein
123
Reboxetine
121
Red bean
147
Red Blood Cell Morphology
see Heinz bodies
81
Red currant
147
155
Renin mass
122
Renin mass, decubitus
122
459
Index
Index
Index
Index
460
460
Resistance to activated protein C (aPCR)
122
Respiratopry screening (SX1)
122
Respiratory allergy
155
155
122
Reticulocytes
122
Retinol
see Vitamin A (retinol)
135
Retinol
122
Retinol binding protein
123
Reverse T3 (rT3)
123
Reverse Triiodothyronine
see Reverse T3 (rT3)
123
Rf
see Rhumatoid factor (turbid.)
123
Rf Iga
see Rheumatoid factor ELISA (IgM, IgA) 123
Rf Igm
see Rheumatoid factor ELISA (IgM, IgA) 123
Rf Puncture Fluid
see Rhumatoid factor (puncture fluid) 123
Rh Group
45
Rh Group
45
Rh Typing
45
Rh Typing
45
Rheumatoid factor ELISA (IgM, IgA)
123
153
153
153
rHev b 5
153
rHev b 6.01
153
153
rHev b 8, profiline (Latex, recomb.)
153
153
Rhizopus nigricans
157
Rhumatoid factor (puncture fluid)
123
Rhumatoid factor (turbid.)
123
Ri Antibodies
see Anti-Ri Ab
36
Riboflavine
see Vitamin B2 (riboflavine)
135
Riboflavine
123
Ribosomal Antibodies
see Anti-ribosomal Ab
36
150
Rice
147
Rice Igg
see Anti-Rice, IgG
149
Rickettsia sp. (IgG, IgM)
123
Rickettsia Sp. Serology
see Rickettsia sp. (IgG, IgM)
123
Rifabutin
123
Rifampicin
123
Risperidone + 9-OH-Risp.
Ritonavir
Rose Bengal
see
Rose hip
Roshental
see
Rotavirus
Rough marshelder
rPhl p 1 (Thimoty)
rPhl p 11 (Thimoty)
rPhl p 2 (Thimothy)
rPhl p 4 (Thimothy)
rPhl p 6 (Thimothy)
rPhl p 7
Rst
see
Rstf
see
Rsv Serology
see
Rt3
see
Rubella (IgG, IgM)
Rubella IgG Avidity
Rubella Serology
see
Rubella, immunity (IgG)
Rye
Rye Igg
see
Rye-grass
S 100 protein
Saa
see
Saffron
Sage
Salicylates
Salivary cortisol
Salivary DHEA
Salivary estradiol
Salivary progesterone
Salivary testosterone
Salmon
Salmon Igg
see
Salmonella
Salmonella Serology
see
Brucella
Clotting Factor XI
Reverse T3 (rT3)
Rubella (IgG, IgM)
Anti-Rye, IgG
Amyloid serum A
Anti-salmon, IgG
Salmonella
124
124
141
47
147
57
124
150
150
151
151
151
151
151
151
151
151
151
151
128
128
122
123
147
124
124
124
124
152
147
149
151
124
27
147
147
124
124
125
125
125
125
147
149
125
125
461
Index
Index
Index
Index
462
462
Salt grass
151
Saltwort
150
Saquinavir
125
Sardine (pilchard)
147
Sardine Igg
see Anti-Sardine (pilchard), IgG
149
Savinase
153
Sb
see Antimony
34
Scallop
147
SCC
125
Scc-Ta4 Antigen
see SCC
125
Schistosomas
see Schistosomiasis
126
Schistosomiasis
126
Scl 70 Antibodies
see Anti-Scl 70 Ab
36
Screening For Osteoporosis
see Osteoporosis screening
107
Screening For Plasmodium Falciparum Ag
see P. falciparum Ag screening
107
Screening For Psa
see PSA Screening
120
Se
see Selenium (serum/plasma)
126
Seasonal mix
155
Second Trimester Screening
see Screening 2nd trimester + AFP (15 0/7 to 18 6/7 weeks of pregnancy)
126
Selenium (serum/plasma)
126
Seminal fluid
157
Serotonin (Urine 24h)
126
Serotonin (whole blood)
126
Serotonin Metabolite
126
Serotonin Metabolite
19
Sertraline
126
Serum Amyloid A
see Amyloid serum A
27
Serum Amyloid A Proteina
see Amyloid serum A
27
Serum cocain (qn)
127
Serum crosslaps
127
Serum Iodine
127
Serum Protein Electrohoresis
see Protein profile
118
Serum viscosity
127
Sesame seed
147
Sesame Seed Igg
see Anti-Sesame seed, IgG
149
158
Sex hormone binding globulin
127
Sex-Binding-Globuline
see Sex hormone binding globulin
127
Shbg
see Sex hormone binding globulin
127
Sheep (epithelium)
155
Sheep milk
147
Sheep Milk Igg
see Anti-Sheep milk, IgG
149
Sheep sorrel
150
Sheep whey
147
Shigella
127
Shigellosis
see Shigella
127
Shrimp
147
Sialic Acid Deficient Transferrin
Sickle Cell Test
see Falciformation test
71
Silk
153
Silk waste
153
Silver Plasma
see Plasma Silver
113
Sirolimus
127
Sla Antibodies
see Anti-SLA Ab
36
Sm Antibodies
see Anti-Sm Ab
37
Smooth Muscle Antibodies
37
Snail
147
Sod
see Superoxyde dismutase (SOD)
128
Sodium (urine 24h)
127
Sodium sulfite
148
Sodium Valproate
see Valproate
134
Sole
147
Soluble Liver Antigen Antibodies
see Anti-SLA Ab
36
128
Somathormone
79
Somatomedin C
87
Somatotrop Hormone
79
Somatotrophic Hormone
79
Somatotrophin
79
Somatrotopin
79
Soya bean
147
Soya Bean Igg
see Anti-Soya bean, IgG
149
Spearm Iga
see Anti-sperm Ab, IgA
37
Spearm Igg
see Anti-sperm Ab, IgG
37
Spelt wheat
147
Spice mix
141
Spice mix
141
Spice mix
141
Spice mix
141
Spinach
147
Spinach Igg
see Anti-Spinach, IgG
149
Spruce
156
Squamous Cell Carcinoma
see SCC
125
Squid
147
Ssa/Ro Ab
see Anti-SSA/Ro Ab
37
Ssa/Ro Antibodies
see Anti-SSA/Ro Ab
37
Ssb/La Ab
see Anti-SSB/La Ab
37
Ssb/La Antibodies
see Anti-SSB/La Ab
37
Staphylococcal enterotoxin A
139
Staphylococcal enterotoxin B
139
Staphylococcal enterotoxin C
139
463
Index
Index
Index
Index
464
464
Staphylococcal enterotoxin D
139
Staphylococcal enterotoxin TSST
139
Staphylolysin Antibodies
see Anti-staphylolysin
37
Steatocrit
see Acid steatocrit
20
Stemphylium herbarum
158
Stool Antigen Helicobacte Pylori
see Helicobacter pylori (Stool Ag)
81
Strawberry
147
Strawberry Igg
see Anti-Strawberry, IgG
149
Streptodornase B Antibodies
37
Streptolysin O Antibodies
see ASLO Anti-streptolysin-O
41
Streptomycin
128
Striated Muscle Antibodies
see Anti-striated muscle Ab (IF)
38
Stuart Power
56
Sugar beet
150
Sugar beet (seed)
147
Sugar Beet Igg
see Anti-Sugar beet (seed), IgG
149
Sulfamethoxazol
142
Sulfonylurea
128
Sulthiame
see Sultiame
128
Sultiame
128
Sunflower
150
Sunflower seed
153
Superoxyde dismutase (SOD)
128
Suxamethonium
142
Sweet chestnut
147
Sweet potato
147
Sweet vernal grass
151
Swordfish
147
Sx1 Allergènes détaillés
152
Syndrome Goodpasteure Serology
Synthetases Antibodies
38
Syphilis FTA abs. Ig (IF)
128
Syphilis FTA abs. IgM (IF)
128
Syphilis Ig
129
Pallidum Serology
see Syphilis Ig
129
Syphilis, screening
129
T3
see Total T3
131
T3 Antibodies
see Anti-T3 Ab
38
T4
see Total T4
131
T4 Abtibodies
see Anti-T4 Ab
38
Ta4
see SCC
125
Taenia Solium Igg
see Cysticercosis IgG
63
Tag 72-4
see CA 72-4
48
Tbe Virus Pcr
see Tick-borne encephalitis (PCR)
130
Tbe Virus Serology
see Tick-borne encephalitis
129
Tea
147
Temazepam
see Diazepam
66
Testosterone
see Total testosterone
131
Testosterone Bioavalability
see Free testosterone (calculated)
75
Testosterone Salivary
see Salivary testosterone
125
Tetanus toxoid
142
Tetrahydrocannabinol Quantitative Serum
see Cannabis (THC), quAntitatiove in serum 50
Tetrahydrocannabinol Urine
see Cannabis (THC)
50
Tetraiodothyronine Free
see Free T4
75
Tetramine
157
Tg
see Thyroglobulin (TRACE)
129
Tg
see Triglycerides
133
Tg Antibodies
38
Tg-Puncture Fluid
see Triglycerides (puncture fluid)
133
Thc (Cannabis) Quantitative Serum
see Cannabis (THC), quAntitatiove in serum 50
Thc (Cannabis) Urine
see Cannabis (THC)
50
Theophylline
129
Thiamin
see Vitamin B1 (thiamin PP)
135
Thiamin PP
135
Thiocyanates
see Cyanide
63
Thrombin Cloting Time
see Thrombin time
129
Thrombin time
129
Thuja
156
Thyme
147
Thyrocalcitonin
see Calcitonin
49
Thyroglobulin (TRACE)
129
Thyroglobulin Antibodies
38
Recetor Antibodies
see Anti-TSH receptor Ab
39
Thyroidean Antibodies
see Anti-T3 Ab
38
Thyroidean Antibodies
see Anti-T4 Ab
38
Thyroperoxidase Antibodies
38
Thyroxine
see Total T4
131
Tiagabine
129
Tiapride
129
Tick-borne encephalitis
129
Tick-borne encephalitis (PCR)
130
Tilletia tritici
158
Timothy grass
151
Tissue Polypeptide Antigen
see TPA/TPS
132
TNF alpha
130
Tni
see Troponin I
134
Tobacco Alkaloid
59
Tobacco Alkaloid Urine
see Cotinin (urine)
60
Tobacco leaf
157
Tobacco Test
59
Tobacco Test
see Cotinin (urine)
60
Tobramycin
130
465
Index
Index
Index
Index
466
466
Tocopherol
see Vitamin E (alpha-tocopherol)
136
Tomato
147
Tomato Igg
see Anti-Tomato, IgG
149
Topiramate
130
Total amylase
130
Total amylase (urine 24h)
130
Total Anticoagulante Protein S Antigen
see Protein S, total (Antigen)
119
Total Bilirrubin
see Bilirubin, total
44
Total Bilirrubin (Puncture Fluid)
see Bilirubin, total (puncture fluid)
44
Total Ca
see Calcium, total
49
Total Calcium
see Calcium, total
49
Total calcium
130
Total Carnitine
see Carnitine
51
Total Cholesterol
see Cholesterol (total)
54
Total cholesterol
130
Total Cholesterol (Puncture Fluid)
see Cholesterol (poncture fluid)
53
Total Ck
see CK, total
55
Total CK
130
Total Estriol
see Estriol, total
70
Total estriol
130
Total HCG
130
Total HCG (tumor marker; testicles)
130
Total Hemolytic Complement Activity
see CH50 (haemolytic complement)
51
Total IgE
131
Total Oestriol
see Estriol, total
70
Total Prostate-Specific Antigen
see PSA
119
Total Protein S Antigen
119
Total proteins
131
Total proteins (urine)
131
Total Ps Ag
119
Total T3
131
Total T4
131
Total testosterone
131
Total Thyroxine
see Total T4
131
Total Triiodothyronine see Total T3
131
Total urinary porphyrin (urine 24h)
131
Toxics Screening Urine
67
Toxocarosis IgG
131
Toxoplasma Pcr
see Toxoplasmosis DNA (PCR)
132
Toxoplasmosis DNA (PCR)
132
Toxoplasmosis Igg
see Toxoplasmosis, presence of immunity (IgG) 132
Toxoplasmosis IgG
132
Toxoplasmosis IgG Avidity
132
Toxoplasmosis IgG, IgM
132
Toxoplasmosis IgM
132
Toxoplasmosis Serology
see Toxoplasmosis IgG, IgM
132
Toxoplasmosis, presence of immunity (IgG)
Tpa
see TPA/TPS
TPA/TPS
Tpo Antibodies
Tps
see TPA/TPS
Trab
Trachoma Serology
see Chlamydia trachomatis (IgG IgA)
Tragacanth (E413)
Trak
Tramadol
Transferrin
Transglutaminase Iga
see Anti-transglutaminase Ab, IgA
Transglutaminase Iga
see Anti-transglutaminase IgG + IgA
Transglutaminase Igg
see Anti-transglutaminase Ab, IgG
Transglutaminase Igg
see Anti-transglutaminase IgG + IgA
Trazodone
Tree mix
Tree mix
Tree mix
Tree mix
Tree mix
Tree mix
Tree mix
Treponema Pallidum Fta Abs
Treponema Pallidum Fta Igm Abs
see Syphilis FTA abs. IgM (IF)
Treponema pallidum IgG WB
Treponema pallidum IgM WB
Treponema Pallidum Screening
see Syphilis, screening
Trf
see Transferrin
Triacylglicerides
see Triglycerides
Triacylglicerides Puncture Fluid
see Triglycerides (puncture fluid)
Triazolam
Trichinellosis Serology
see Trichinosis
Trichiniasis Serology
see Trichinosis
Trichinosis
Trichoderma viride
Trichophyton ment. interdigitalis var
Trichophyton rubrum
Triglycerides
Triglycerides (puncture fluid)
Triiodothyronine see Total T3
Triiodothyronine Free
see Free T3
Trimethoprime
Trimipramine
132
132
132
38
132
39
52
147
39
132
132
39
39
39
39
133
141
141
141
141
141
141
141
128
128
133
133
129
132
133
133
133
133
133
133
158
158
158
158
158
133
133
131
75
153
152
133
467
Index
Index
Index
Index
468
468
Trisomy 21 Maternal Serum Markers
see Screening 1st trimester (Trisomy 21) (10 3/7, 13 0/7 weeks of pregnancy)126
134
Tropical fruit mix
141
Troponin I
134
Trypsin
134
Trypsin Immunoreactive
see Immuno reactive trypsin
89
Tsh Receptor Antibodies
39
Tt
see Thrombin time
129
Ttr
see Prealbumin
115
Tuberculosis Complex see M. Tuberculosis (T Spot TB)
96
Tuberculosis Complex Pcr
see Mycobacterium tuberculosis complex (PCR) 102
Tuberculosis Cultur/Tuberculosis
see Mycobacteria (culture and direct
Direct Examination
examination)
102
Tumour Necrosis Factor see TNF alpha
130
Tuna
147
Tuna Igg
see Anti-tuna, IgG
149
Turkey feathers
155
Turkey meat
147
Type I Procollagen
see Procollagen 1 N-terminal peptide 116
Type Iii Procollagen
see Procollagen lll
116
152
Ubidecarenone
see Coenzyme Q10
58
Ubiquinone
see Coenzyme Q10
58
158
Ursodeoxycholic Acid
see Biliary acids
44
Va
see Vanadium
134
Valproate
134
Valproic Acid
see Valproate
134
Vanadium
134
Vancomycin
134
Vanilla
147
Vanilmandelate (VMA)
134
Vanilmandélic Acid
see Vanilmandelate (VMA)
134
Varicella zona virus Ig (FC)
135
Vasopressin
30
Vdrl
see Syphilis, screening
129
Vegetable mix
141
Vegetable mix
141
Vegetable mix
141
Vegetable mix
141
Vegetable mix
141
Velvet grass
141
Very Low Density Lipoprotein
see VLDL (calculated)
136
Very-Low Density Lipoprotein Cholesterol
see Cholesterol VLDL (calculated)
54
Viral Load Rna Hiv1 see HIV1 RNA (Real-time PCR)
85
Virginia live oak
Virus Chikungunya IgG + IgM
Visceral leishmaniosis Ig
Viscosity Serum
see Serum viscosity
Vitamin A
see Retinol
Vitamin A (retinol)
Vitamin B1 (thiamin PP)
Vitamin B12 (cobalamin)
Vitamin B2
see Riboflavine
Vitamin B2 (riboflavine)
Vitamin B5
see Pantothenate
Vitamin B5 (pantothenate)
Vitamin B6
see Pyridoxal-P
Vitamin B6 (pyridoxal-P)
Vitamin B8
see Biotin
Vitamin B8
see Vitamin H (Biotin)
Vitamin C (ascorbate)
Vitamin D-25-Hydroxivitamin D-D2+D3
see 25-OH Vitamin D
Vitamin E
see Alpha-tocopherol
Vitamin E
see Gamma-tocopherol
Vitamin E (alpha-tocopherol)
Vitamin H
see Biotin
Vitamin H (Biotin)
Vitamin K1
see Phylloquinone
Vitamin K1 (phylloquinone)
Vitamin Pp
see Niacin
Vitamin Pp
see Thiamin PP
Vitamin PP (niacin)
Vitamina B9
see Folate
Vldl
Vldl
see VLDL (calculated)
VLDL (calculated)
Vldl Cholesterol
Von Willebrand factor (antigen)
w1, w2, w3 ( weed mix)
Waaler-Rose
Waaler-Rose Test
see Waaler-Rose
Walnut
Walnut Igg
see Anti-Walnut, IgG
Walnut pollen
Watermelon
West nile virus (PCR) in CSF
156
135
135
127
122
135
135
135
123
135
109
135
120
136
44
136
136
19
24
77
136
44
136
112
136
104
135
136
73
54
136
136
54
137
141
137
137
150
150
148
149
156
148
137
137
137
469
Index
Index
Index
Index
470
470
Western ragweed
Wheat
Wheat Igg
see
Whipple`S Disease Pcr
see
White ash
White bean
White pine
White-faced hornet
Wild Rye Grass
see
Wild rye grass
Willebrand Factor Antigen
see
Willow
Wnv-Igg
see
Wnv-Igm
see
Wnv-Pcr
see
Wormwood (absinthe)
Wright
see
Xylose (plasma)
Xylose (urine)
Yeast
Yeast Igg
see
Yellow fever neutralizing Ab
Yellow hornet
Yersiniosis
Yersiniosis Serology
see
Yo Antibodies
see
Zinc (plasma)
Zinc (whole blood)
Zinc Erytrocytes
see
Zinc protoporphyrin
Zn Plasma
see
Zolpidem
Zonisamide
Zopiclon
Zopiclone
see
Zucchini
Zuclopenthixol
Anti-Wheat, IgG
Wild rye grass
Von Willebrand factor (Antigen)
West nile virus (PCR) in CSF
Brucella
Anti-Yeast, IgG
Yersiniosis
Anti-Yo Ab
Zinc (whole blood)
Zinc (plasma)
Zopiclon
150
148
149
134
156
148
156
152
151
151
137
156
137
137
137
150
47
137
137
148
149
137
152
137
137
39
138
138
138
138
138
138
138
138
138
148
138

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