Bupa Cromwell Hospital Laboratory Guide (type:pdf size:1.67MB)
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Bupa Cromwell Hospital Laboratory Guide (type:pdf size:1.67MB)
Laboratory Guide 2015 Valid from 1st January 2015 TAP2547/20-11-14/V2 Bupa Cromwell Hospital Laboratory Guide 2015 Valid from 1st January 2015 TDL Customer Charter We are committed to being the most helpful pathology service in the UK. Our goal is always to provide an extraordinarily high level of service to our customers, who request pathology services from us, for their patients. This is a philosophy shared by all Sonic Healthcare Pathology practices. We are medically led, and patients are our first concern. We look to improve our operational expertise, and we strive to provide professional leadership within our specialities. We promise to provide easy access to our pathology services • We will always provide a friendly, helpful service. • Our automated laboratory departments operate 24 hours a day, 7 days a week, and we aim to achieve, or improve, our published turnaround times. • Our medical consultants and laboratory teams are available to provide additional clarification, advice or information for tests or results. We promise to help you • We invest in technical and operational excellence, with an extensive test repertoire, to ensure access to a leading-edge laboratory service. • We return results using the reporting method choice, in an as organised and safe way as possible. We promise to support the communities we work in • We do our utmost to provide a service, even during extreme external disruptions beyond our control. • We are committed to our staff’s continued professional development. • We have an organised programme to provide young people with work experience. • We support our local community. We promise to listen • We acknowledge customer issues, and try to resolve them promptly and consistently. • If our delivery has been adversely affected, we will address and review our procedures so that our service reaches the highest standards. • We actively ask for feedback so that we can continue to improve our service. Complaints policy It is the aim of the company to maintain its core values. Two of these core values are: • Commit to service excellence. • Be enthusiastic about continuous improvement. Where a doctor or patient needs to raise a complaint about service levels they should contact Cyril Taylor, Director of Laboratory Compliance, or Annette Wilkinson, Director of Service at [email protected] giving details of the complaint. The information forwarded will be treated as confidential and investigated by the above persons. This process will link into Quality Management procedure for incident investigation. Corrective and preventative actions will be introduced where indicated Contents PAGE Index of Bupa Cromwell Hospital Profiles 2-3 Helpful Information for using the laboratory at the Bupa Cromwell Hospital 4-12 Quality Assurance 13-14 Special sample taking instructions 15 Bupa Cromwell Hospital Screening Profiles CP1 – CP12 16-17 18 Lp-PLA2 (PLAC®) Test Biochemistry 19-24 Haematology 25-27 Microbiology and Swab guide 28-30 Endocrinology 31-35 Reproductive Health 36-39 TDL Andrology 40-44 STI Detection: Testing and Detection Information 45-52 Immunology: General/Infectious Immunology/Serology 53-58 Tropical Immunology 59-60 Virology: Immune Status Testing 61 Hepatitis Testing and Hepatitis Profiles 62-65 HIV Testing 66-67 General 68-69 Special Assays by PCR/Nucleic Acid Amplification 70 Tumour Markers 71-74 Genetics – Cytogenetics /Molecular Genetics 75-94 In-Vivo Tests: General/Antibiotic Assays/Therapeutic Drug Assays 95-96 Vitamins, Nutrition and Lifestyle97-98 Omega 3/6 99 Allergy 100-108 Cytology/Histopathology 109-116 Screening for Drugs of Abuse / Alcohol 117 Occupational Health 118-120 Alphabetical Index 121-141 TDL Referral Labs 142 Forms Downs Risk Profile (1st & 2nd Trimester) Leukaemic Studies Request Form (Cytogenetics / Molecular Genetics) Genetic Request Form 143 1 Index of TDL Profiles BUPA CROMWELL HOSPITAL SCREENING PROFILES CP1 CP2 CP3 CP4 CP5 CP6 CP7 CP8 CP9 CP10 CP11 CP12 PAGE Bupa Cromwell Full Blood Count 16 Bupa Cromwell Haematology Profile 16 Bupa Cromwell Biochemistry Profile 16 Bupa Cromwell Haematology and Biochemistry Profile16 Bupa Cromwell Thyroid Profile 16 Bupa Cromwell Admission Profile 16 Bupa Cromwell Executive Screen 16 Bupa Cromwell Female Premier Screen 17 Bupa Cromwell Male Premier Screen 17 Bupa Cromwell Cardiovascular Risk Profile 17 Bupa Cromwell Pre-Angioplasty Screen 17 Bupa Cromwell Diabetic Profile17 TDL SPECIFIC PROFILES Alcohol Profiles Allergy Screens Amenorrhoea Profile Anaemia Profile Andropause Profile Antenatal Profile Autoantibody Profiles Azoospermia Profile Bone Screens 117 100-103 31, 35 25, 27 31, 34 25, 27 53, 57 80 19, 24 Calprotectin / Elastase Profile 53, 57 CHANGE Cardiovascular Risk Profiles 20, 24 Chest Pain Profile Chlamydia (Species Specific) Antibody Profile 20, 24 53, 57 Chronic Fatigue Syndrome Profile Clotting Profiles Coeliac/Gluten Sensitivity Profiles Deep Vein Thrombosis (DVT) Profile (Pre-travel screen) Diabetic Profiles Drugs of Abuse / Alcohol Screens Enteric Organism Rapid Antigen Detection Entovirus Screen Epstein-Barr Virus Profile 53, 57 25, 27 53-54, 56 25, 27, 56, 59-60 20, 24 117 59-60 68-69 70 Erectile Dysfunction Profile Female Hormone Profile 31, 34 31, 34 First Trimester Antenatal Screening Bloods Food Handler Screens Genetic Profiles Haematology Profile 31, 35 119-120 93 25, 27 2 PAGE Hepatitis Profiles 62 Hirsutism Profile 31, 35 HIV Profiles 45, 51, 62, 66, 70 HRT Profile 31, 35 Impotence Profile 31, 34 Infertility Male Profile 31, 34, 43 Iron Overload Profile 21, 23, 84, 93 Iron Status Profile 21, 23 Jewish Carrier Screen 93 Lipid Profile 21, 23 Liver Function Tests 21, 23 Male (cause of) Recurrent Miscarriage Profile 43 Male Genetic Reproductive Profile 43, 93 Menopause Profile 32, 35 Metabolic Syndrome Profile 32, 35 Mineral Screen 97-98 Myeloma Screen 21, 23 Natural Killer Profile 26-27 Needle Stick Injury Profile 119-120 Neurological Viral Screen 68-69 Osteoporosis Screen 21, 24 Pituitary Function Profile 32, 35 Pneumonia (Atypical) Screen 68-69 Polycystic Ovary Syndrome Profile 32, 35 Post-Travel Screens 59-60 Pre-Travel Screen 25, 27, 56, 59-60 Prostate Profile 71 Recurrent Miscarriage Profile Respiratory Viral Screen Rheumatology Profiles Rickettsial Species Antibodies Profile STI / Sexual Health Profiles Thrombotic Risk/Miscarriage Profile Thyroid Profiles Torch Screen Trace Metal Screen Tropical Screen Urea and Electrolytes Viral Screen Profile Vitamin Screens Von Willebrand Profile Personal Profile (Doctor’s own) are available on request. Sports/Performance 43, 93 68-69 55, 58 55, 59 91-92 97-98 26-27, 93 32, 34 55, 68-69 98, 118 59-60 22-23 68-69 97-98 26-27 3 Helpful information The Laboratory Guide is designed to give the Bupa Cromwell Hospital an easy-to-use reference for the most regularly requested services, pathology profiles and tests. If you are not able to find details for tests and services, please contact the laboratory on 020 7460 5565 or Freeset 7064. We continue to develop a wide range of test and patient services and our aim is to offer commitment to customer service, strong working relationships and help and support for referring doctors and their practices. All services can be arranged by contacting the laboratory on 020 7460 5565, or for more information visit www.tdlpathology.com. PHLEBOTOMY SERVICE AT BUPA CROMWELL HOSPITAL This service is provided by the Bupa Cromwell Hospital and is available to all outpatient clinics. The phlebotomy area is situated in the outpatient department on the ground floor. Monday to Friday: 8.00am – 8.00pm, Saturday: 8.00am – 2.00pm LABORATORY HOURS The Laboratory is located at 1-3 Pennant Mews. Laboratory hours are: Monday to Friday: 8.00am – 8.00pm, Saturday: 8.00am – 2.00pm An emergency Out of Hours Service is available seven days per week. Our on-call staff can be contacted via switchboard on 020 7460 2000 or Freeset 7064. CLINICAL INFORMATION, REQUIREMENTS AND DELIVERY OF SAMPLES TO THE LABORATORY • The responsibility of labelling specimens lies with the person taking the samples. • The responsibility of providing appropriate clinical information lies with the person requesting the tests. • All specimens must be enclosed within a self sealing plastic transport bag. • Wire staples are dangerous and should not be used on any request forms or specimen bags. Pathology samples must be delivered to the laboratory using the Pneumatic Tube System within the main hospital building. There are points of access to this delivery system strategically positioned around the hospital. RED carrier must be used ONLY for transporting Pathology Specimens and reference made to the hospital operating procedures before sending samples to the laboratory. 4 Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Helpful information Specimen exceptions which must not be sent to the laboratory in the Pneumatic Tube System are: • Specimens from non-repeatable procedures (e.g., bone marrow, CSF, etc.) Specimens from patients known or suspected to have: • Blood Culture and Temperature labile specimens • Transmissible spongiform encephalopathy (e.g. CJD) •Tissue / Histopatholoy specimens •Tuberculosis • Bone marrow specimens • Severe Acute Respiratory Syndrome (SARS) • Cerebro-spinal fluid (CSF) • Infection with a Hazard Group 4 organism (includes Viruses causing haemorrhagic fever, e.g. Ebola, Lassar fever) •Specimens / Blood Products containing more than 30ml fluid • All urgent specimens • Exposure to biological warfare organisms such as Anthrax, Plague, Smallpox, Botulism, Tularaemia All samples should be forwarded to the laboratory AS SOON AS POSSIBLE after sample taking. If the Pneumatic Tube System is out of action all samples will be delivered to the hospital. Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 5 Helpful information SEMEN ANALYSIS Semen needs specialist handling within the laboratory. For this reason all requests for Semen Analysis should be made by appointment. Practices or patients should contact TDL Andrology on 020 7025 7940 or 020 7307 7373 to make an appointment and confirm instructions for sample collection. Appointments for andrology should be made between the following hours: Monday to Friday 8.00am – 5.00pm Saturday 9.00am – 3.00pm 1. Patients must abstain from ejaculation for at least 2 days but not longer than 5 days before the test. 2. Ideally semen samples should be produced at TDL’s Patient Reception, 76 Wimpole Street, unless there are exceptional circumstances. If this is not possible the fresh sample must arrive at the laboratory within 60 minutes of production. This must be pre-arranged with the laboratory. Please contact TDL Andrology on 020 7025 7940 for special instructions. Refer to Andrology, see page 40. PATIENT REQUEST FORM To comply with good clinical practice it is important that there is one request form for each patient’s request, and specimens and form are correctly and fully labelled, to include 3 unique patient identifiers: • First name, Surname, Date of Birth • Time and Date of Collection of Samples • Bupa Cromwell Hospital Medical Record Number (MRN) • Type of Sample and anatomical site, where appropriate (eg swabs) • Department within the hospital • Relevant clinical information • Requesting clinician • Relevant details of medication • Contact details for urgent results • High Risk Samples should be identified and packed separately If additional tests are required for a sample already received please contact the laboratory with your request for specific further analysis. Samples are stored within timeframes according to their discipline. Laboratory staff will advise on the ability to undertake further testing. 6 Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Helpful information REQUESTS FOR ADD ONS The majority of samples received in the laboratory are kept for up to a week. If sample type and volume allow for further testing additional tests can be added by telephoning 020 7460 5565. Please specify the test details to be added, together with Patient NAME and Hospital number. UNLABELLED SAMPLES All samples should be clearly labelled with the patient’s correct name, MRN, date of birth and date of sample. In the event this is not so: a) Where possible the sample taker will be contacted immediately and informed of the situation and invited to send another appropriately labelled sample. b) The request for the test will be entered in the computer and the facts of the situation will be recorded. c) Under no circumstances will laboratory staff label samples on the instruction of the requesting doctor. Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 7 Helpful information BLOOD TRANSFUSION Hours of service are as for routine pathology with emergency requests handled by on call staff. All specialist testing will be undertaken by the North London Transfusion Centre in Colindale and will be co-ordinated via the laboratory. Request Form Criteria Labelling requirements for request forms includes all the information required on the sample as well as: • The patient’s clinical details including reason for request of test and / or blood components • Date and time of blood product request (if required) • Requesting Clinician • Blood Product requests should comply with the guidelines stated in the Hospital Blood Transfusion Policy • All samples for blood transfusion MUST carry a full name, hospital number, date of birth, date and time taken, and signature of sample taker. Addressographs (Pre-printed labels) are NOT ACCEPTABLE. 8 Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Helpful information TEST SAMPLE TYPE NOTES TURNAROUND TIME Blood group and antibody screen (G & S) 1xBT A full tube is recommended. The sample MUST be properly labelled and accompanied by a properly completed form. Strongly recommended for all patients likely to be transfused in the near future. G & S samples are kept for 7 days and can be converted to a crossmatch if the sample is still valid (see below). 1 working day. Crossmatch Carried out on a G & S sample A previously tested G & S sample can be used or a Optimum 24 hours. If a valid fresh sample may be required (see sample validity G & S is in the laboratory 2 table below or contact the laboratory for advice). hours is sufficient. Please request routine work as early as possible. Emergency Crossmatch 1xBT Please request routine work as early as possible. 40 minutes, but more notice if possible. Request must be confirmed by telephone call. Direct Antiglobulin test (DAT) 1xBT Labelling is important, (e.g. twins). 24 hours, but more notice if possible. Request must be confirmed by telephone call. BT BT BT Sample validity for use for blood transfusion IF THE PATIENT WAS TRANSFUSED WITHIN THE LAST THE SAMPLE MUST HAVE BEEN BLED WITHIN THE LAST 3 to 14 days 24 hours 15 to 28 days 72 hours 29 days and over <7 days (taken from BCSH (2004) Guidelines for pre-transfusion compatibility procedures in blood transfusion laboratories. Transf. Med., 14, 59-73) The Hospital Blood Issue Fridge is located in a secure room in the basement, near Main Theatres, which can be accessed by hospital staff ID Access Cards. Unit of blood not transfused within 30 minutes of removal from the blood bank fridge can be returned to the issue fridge and documented. If blood units remained at room temperature for more than 30 minutes after removal from the blood bank fridge they MUST NOT be transfused and the laboratory should be contacted to quarantine the blood component. For timescales related to the transfusion of blood components refer to the Hospital Transfusion Policy. Under no circumstances should the blood be stored in a domestic fridge or left at room temperature. Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 9 Helpful information HIGH RISK SPECIMENS AND LABELLING The labelling of specimens which contain or may contain Hazard Group 3 pathogens is a requirement of the Health & Safety Commission and allows special safety procedures to be taken to prevent infection in laboratory workers. HAZARD GROUP 3 CONTAINS Hepatitis B virus Brucellosis bacillus Anthrax bacillus Dysentery bacillus (Shigella dysenteriae) Hepatitis C virus HIV 1+2 Abs Mycobacterium tuberculosis and most other mycobacterium species E. Coli verocytotoxigenic strains (eg. 0157:H7) Paratyphoid A, B & C bacilli Typhoid bacillus A yellow warning label with ‘HIGH RISK’ written in red must be attached to both specimen and request form. These should be clearly labelled as urgent, preferably with a fluorescent marker. The samples when identified are prioritised. RESULTS SERVICE Turnaround times for results are shown in this guide. Quoted turnaround times are in working days from the time of receipt of sample. Urgent requests will be dealt with as a priority. For urgent samples we recommend that Red Sample Bags are used. These are provided by the laboratory and allow requests to be handled as priority. Where test results may suggest the need for urgent clinical assessment of the patient, the laboratory will contact the referring clinician. This procedure is part of the laboratory critical value policy. It is not policy for the laboratory to give or send patients their pathology results unless there is specific instruction from the referring clinician to do so. TDL WEBSITE: WWW.TDLPATHOLOGY.COM Our website contains comprehensive information on the range of tests and services we provide. The website is updated monthly with services and test information, including sample types, turnaround times, special instructions and information. INTRODUCING TDL E-VIEW. Registered users can view results online. This is a secure log-on/ password protected look-up system with a cumulative results reporting function that can be accessed using an existing internet connection. 10 Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Helpful information CONSULTANT ADVICE AND OPINION Each department in the laboratory is consultant led. For doctors wanting clinical advice or professional support, TDL consultants can be contacted via the laboratory. Contact the consultant Haematologist to make arrangements for venesections for Haemochromatosis and polycythaemia. TDL MEDICAL CONSULTANT MEDICAL DIRECTOR Professor Michael Patton BIOCHEMISTRY Dr Paul Holloway IMMUNOLOGY Dr Scott Pereira FRCP, FRCPCH FRCPath FRCPath Dr Anne Tarn Dr Suranjith Seneviratne MRCPath MRCP, FRCPath HAEMATOLOGY / BLOOD TRANFUSION Dr Marie Scully MRCP, FRCPath Dr Adrian Bloor FRCP, FRCpath Dr Simon Jowitt FRCPath Dr Denise Darby MRCP, FRCPath Professor Carel le Roux FRCPath Dr Gilbert Weiringa PhD MRCPath MICROBIOLOGY Dr Michael Kelsey FRCPath Dr Julie Andrews FRCPath Dr Edward Kaczmarski FRCPath VIROLOGY Dr Mark Atkins FRCPath CYTOLOGY Dr Colin Clelland FRCPath Dr Mary Falzon MRCS, LRCP, FRCPath GENETICS: MOLECULAR/ CYTOGENETICS Professor Michael Patton FRCP, FRCPCH Consultant Clinical Geneticist Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 11 Helpful information WHO TO ASK FOR HELP Direct Tel: 020 7460 5565 Freeset: 7064 Direct Fax: 020 7835 0361 Heads of Pathology Team at the Bupa Cromwell Hospital Tel: 020 7460 5565 Laboratory Manager Swati Shukla Main Laboratory Noel Smith Blood Transfusion Ishmael Carboo Specimen Reception Robert Stanton Heads of Laboratory Departments at The Doctors Laboratory Tel: 020 7307 7373 12 Andrology Dr Sheryl Homa Cytology Margaret Morgan Immunology/Virology Kushen Ramessur Molecular Genetics Dr Stuart Liddle Cytogenetics Terry Ballard Microbiology Massimo Bonaiti Director of QMG Jan Stewart CEO David Byrne Group Laboratory Director Tim Herriman Laboratory Service Compliance Director Cyril Taylor Director of Sales/Service Annette Wilkinson Director of TDL Genetics Dr Lisa Levett Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Quality assurance The Doctors Laboratory is committed to providing doctors with pathology of the highest quality. The quality of results is of fundamental importance and the laboratory operates to stringent technical and administrative standards. Internal quality assurance is achieved by strict adherence to standard operating procedures for all analytical processes. TDL participates in all recognised National External Quality Assessment Schemes. These schemes are subscribed to by all NHS and private laboratories. Results are subjected to strict internal and external quality control. Details of the laboratories to whom TDL refers specialist testing are available from TDL Referrals. These laboratories are CPA accredited or of equal accreditation status. Details of the tests that are referred are given on the TDL website. QA is administered by TDL’s Quality Management Group (QMG) who also adhere to regulatory and accreditation requirements. BIOCHEMISTRY: UKNEQAS, WEQAS, RIQAS, BIORAD for ACE ACTH (with PTH) AFP / CEA & HCG Antibiotics (Gentamicin, Vancomycin and Amikacin) Anti-Hbs Detection Ammonia Amniotic AFP Cardiac Markers Clinical Chemistry CRP & Ultra-Sensitive CRP Cyclosporin and Tacrolimus Diagnostic Serology Exanthem Diagnostic Serology Hepatitis Drugs of Abuse Ethanol GFR Glucose /Glucometer Glycated Haemoglobins Guildford Peptides Haematinics Healthcontrol Therapeutic Drugs Screen (TDM) Hepatitis A (with B and C) Hepatitis B Serology Hepatitis C Serology HIV Serology Homocysteine HTLV Immunity Screen Lipase Lipid Investigations NT-Pro BNP Paediatric Bilirubins Parasitology Peptide Hormones PSA PTH, ACTH and hCT Rubella IgG Serology Salicylate and Paracetamol Specific Proteins Steroid Hormones Syphillis Serology Thyroglobulin Surveys Thyroid Hormones Total IgE Toxoplasma IgG / M Serology Tumour Markers Toxoplasma IgM Serology Toxoplasma IgG Serology Trace Elements Urine Chemistry HAEMATOLOGY: UKNEQAS for Automated Differential Leucocyte Count Blood Film Morphology Coagulation (Including PoCT Coagulation) Flow Cytometry Full Blood Count Haematology Haematology Analysis Malaria Parasite Films Reticulocyte Sickle Screening Thrombophilia Screening Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 13 Quality assurance TDL GENETICS: CEQAS, ISFG, EMQN, UKNEQAS, ECAT for Constitutional Clinical Cytogenetics (Rounds for Amniocentesis, CVS, Solid Tissue, Blood, Array CGH) QF-PCR Aneuploidy Detection Chlamydia & Gonorrhoea detection by PCR Cystic Fibrosis Cytochrome P450 2D6 genotyping Duchenne / Becker Muscular Dystrophy Hereditary Haemochromotosis (C282Y + H63D) genotyping + reporting HLA Class I (HLA-A, HLA-B, HLA-C) Tissue Typing (low resolution) HLA Class II (HLA-DRB1, HLA-DQB1) Tissue Typing (low resolution HLA-B27 Tissue Typing HLA-B57*01 Tissue Typing Human Papillomavirus DNA Paternity Testing Prader-Willi and Angelman Syndromes Spinal Muscular Atrophy Thrombophilia (Factor II & Factor V) Y Microdeletion PCR Assay BoBs Rapid Aneuploidy detection HLA+ Disease Typing MICROBIOLOGY: UKNEQAS, QCMD for AAFB for Microscopy + Mycobacterium Culture Antimicrobial Susceptibility Clostridium Difficile + MRSA Screening Faecal Parasitology Faecal Haemoglobin EQA scheme General Bacteriology Molecular detection of Mycobacteria Mycology Urinary Antigen: Legionella WEQAS Urinanalysis scheme IMMUNOLOGY UKNEQAS – General Immunology for: Autoimmune Serology ANCA / GBM Antibodies Bullous Dermatosis Antibodies Coeliac Disease Antibodies Allergen Specific IgE Antibodies New General Autoimmune Serology Anti-Phospholipid Antibodies Nuclear and Related Antigens AMH IGRA TBQ Intristic factor Islet Cell Antibodies (Diabetic Marker) 14 EUROQAS: Allergy for specfic IgE UKNEQAS – Infectious Immunology for: HIV Serology / POCT Immunity Screen – VZV, Parvo Viruse, EBV Chlamydia Detect Varicella Zoster (IgG) Serology Parasite Serology Chlamydia & Gonnorhoea (NAAT/PCR) RIQAS Scheme: Syphilis Serology EBV HSV Serology ENDOCRINOLOGY: UKNEQAS for Steroid Hormones Peptide Schemes 1 to 4 Thyroid Scheme Allergens Scheme SHBG Prostate Specific Antigen Tumour Markers PTH Specific IgE / Total IgE AFP / CEA CYTOLOGY: EQA, TEQA for NHSCSP (EQA for Gynaecological Cytopathology) NHSCSP (TEQA for PAP stain) Hologic Imager stain (TEQA) ANDROLOGY: UKNEQAS for Semen Analysis Scheme Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Special instructions for samples 1 Contact the laboratory for special sample tubes/ containers/instructions. 2 Confirmation of not negative drug screens by GCMS may take up to 5 days. 3 Clinical history essential and protect from light. 4 Send to the laboratory without delay. 5 Do not send sample to the laboratory between Friday noon and Monday morning. 6 Contact the Referrals Department before taking and sending sample to the laboratory. 7 Sample should be separated and frozen if sending overnight. 8 DRP Form required. DRP Form can be found at the back of the guide. 9 Clinical history must be provided. 10 Contact the laboratory for special stability tubes for lymphocyte subsets – or take an EDTA sample and ensure same day delivery to the laboratory, Monday to Friday noon (do not send sample between Friday noon and Monday morning). 11 Patient consent required. Consent Form can be found at the back of this guide. 12 Please provide one sample for each person being tested. PRE-TRAVEL SCREEN (DVT) FBC Factor II Prothrombin Gene Factor V Leiden Anticardiolipin TAT Antibodies Profile content 5 Turnaround time DAYS DVT1 9 A A B 14 Provide details of travel history. 15Ammonia Sample: EDTA plasma only. Full tubes and tightly stoppered. On ice, centrifuged and analysed 20-30 mins post venepuncture (or plasma can be frozen). If haemolysed gives falsely high results. Patient: Fasting. Avoid smoking. 16Lactate Sample: Fluoride oxalate plasma only. On ice and separate from cells 15-30 mins, analyse promptly. Handle with care as sweat contains large amounts of lactate. No tourniquet. Patient: Rest 30 mins prior to test. 17 Homocysteine Should be spun and separated with 1 hour of venepuncture. 18 Citrate Samples Samples should be double spun and separated and frozen within 4-8 hours of sample taking, if a delay is expected with transportation to the laboratory, samples must be transported as frozen. 19 Must include patient’s age, height and weight. 20 Sample types: FCRU or PCR swab or TPV or Semen. 21 Urine cytology container, ideally first catch, mid-morning specimen. Profile panel information Profile name 13 Protect from light. Code Sample requirements Reference to sample taking and special handling instructions (see above) 22 Must be fresh. 30 Collect sample at end of exposure. 33 Sample must be labelled by hand with first name, family name and date of birth detailed on sample and form. Do not use labels other than the tube label. 34 Samples must arrive in the laboratory on the same day of sample taking or contact the laboratory. 35 Patient should be fasting and resting for 30 mins before sample taking. Samples need handling urgently. 36 Renin: Sample collected either upright /active or resting /supine (3 hrs lying). 37 Provide sample time and date of collection. Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 15 Bupa Cromwell Screening Profiles CP1-CP12 CP1 BUPA CROMWELL FULL BLOOD COUNT CP4 Full Blood Count BUPA CROMWELL HAEMATOLOGY AND BIOCHEMISTRY PROFILE Full Blood Count ESR CP1 A CP2 BUPA CROMWELL HAEMATOLOGY PROFILE Full Blood Count ESR CP2 A CP3 BUPA CROMWELL BIOCHEMISTRY PROFILE Sodium Glucose Potassium Cholesterol/ Triglycerides Chloride HDL/LDL Bicarbonate Ferritin Urea Creatinine Bilirubin Alkaline Phosphatase AST ALT Gamma GT Total Protein Albumin Globulin Calcium Phosphate Urate Sodium Potassium Chloride Bicarbonate Urea Creatinine Bilirubin Alkaline Phosphatase AST/ALT Gamma GT Total Protein Albumin Globulin Calcium Phosphate Urate Glucose Cholesterol/Triglycerides HDL/LDL Ferritin CP5 BUPA CROMWELL THYROID PROFILE FT3 FT4 TSH CP5 B CP6 BUPA CROMWELL ADMISSION PROFILE CP4 Hep B sAg Syphilis IgG/IgM CP6 A A B B CP7 BUPA CROMWELL EXECUTIVE SCREEN CP4 FT4 TSH FT3 CP7 CP4 A A B B A A B B CP3 B 16 Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. Bupa Cromwell Screening Profiles CP1-CP12 CP8 BUPA CROMWELL FEMALE PREMIER SCREEN CP9 CP4 Amylase Iron TIBC C-Reactive Profile Blood Group TSH FSH Oestradiol Homocysteine B12/Folate BUPA CROMWELL MALE PREMIER SCREEN CP10 CP4 Amylase Iron TIBC C-Reactive Profile Blood Group Homocysteine Ferritin B12/Folate TSH CP4 hcCRP Homocysteine Fibrinogen Lipoprotein (a) CP10 A A B B C C G Hepatitis A Profile Hep B sAg Hep C Abs HIV 1&2 Abs Hepatitis A Profile Hep B sAg Hep C Abs HIV 1&2 Abs Rubella CP11 Urine for m/c/s Stool for o/c/p, culture and sensitivity FOB CP11 A B C AFP C199 CEA PSA Thin Prep PAP AFP C125 C153 C199 CEA CP8 A A A B B B B G RU RF TPV BUPA CROMWELL PRE-ANGIOPLASTY SCREEN CP4 Clotting Profile CK/LDH Hep B sAg Tropical Screen Autoantibody Profile Rheumatoid Factor Syphilis IgG/IgM Viral Screen Urine for m/c/s Stool for o/c/p, culture and sensitivity FOB Tropical Screen Autoantibody Profile Rheumatoid Factor Syphilis IgG/IgM Viral Screen BUPA CROMWELL CARDIOVASCULAR RISK PROFILE CP12 DIABETIC PROFILE Glucose HbA1C U/E’s Lipids FT4/TSH/FT3 CP9 A A A B B B B G RU RF CP12 A B G Ensure all specimens and forms are labelled with given Name, Surname, DOB, Date and Time of collection. Unique Hospital number is required for BT samples. Turnaround times are quoted as working days. 17 Lp-PLA2 (PLAC®) Test The PLAC test measures the amount of lipoprotein-associated phospholipase (Lp-PLA2) in blood. Lp-PLA2 is an enzyme primarily associated with low density lipoprotein (LDL). LDL carries Lp-PLA2 to the coronary artery walls where it activates an inflammatory response. If present, this causes plaque to become more prone to rupture. Because this enzyme is associated with causing inflammation of coronary artery walls, high levels of Lp-PLA2 would therefore seem to indicate an increased risk of heart attack or stroke. Given that the majority of heart attacks and strokes are caused by plaque rupture and thrombosis, individuals with high levels of Lp-PLA2 might benefit from more aggressive management with lipid lowering agents, therapeutic intervention and/or lifestyle modification. Traditional inflammatory markers, such as hsCRP, and CRP, whilst recognised as being useful systemic inflammatory markers are not as sensitive for identifying inflammation of the coronary artery walls. As a result, the PLAC Test, which is measuring levels of Lp-PLA2, serves as a specific independent coronary marker. • Lp-PLA2 is independent of traditional cardiovascular risk factors. • Lp-PLA2 is an enzyme produced in the plaque itself and its measurement is therefore more specific than other inflammatory markers. • Increases in Lp-PLA2 levels are not caused by traditional risk factors. • Imaging tests whilst able to assess the anatomical state of blood vessels, cannot identify plaque that is vulnerable to rupture. Lp-PLA2 levels should help to identify hidden risk of cardiovascular event that might be missed by more conventional risk factors (eg cholesterol levels, blood pressure, family and smoking history). Lipid levels alone cannot provide a great deal of information on the status of the artery wall whereas Lp-PLA2 is a direct measure of artery wall enzyme activity, independent of other cardiovascular markers. It is not intended that the PLAC Test should replace blood lipid testing or other traditional risk factors identified for cardiovascular disease. It provides an additional independent risk marker. The PLAC test is recommended for patients with known CVD disease, or for patients with moderate/ intermediate risk for CVD including, but not limited, to two or more of the following risk factors: • Family history of CVD • Diabetes • Obesity • Metabolic Syndrome / Chronic Kidney Disease • Smoking • Gender/Age (male > 55 / female > 45) • High Cholesterol • On lipid lowering treatment • High blood pressure • High saturated fat diet / physical inactivity Risk Levels are reported quantitatively as Low, Medium or High Low < 151 nmol/min/ml Medium 152 – 194 nmol/min/ml High > 195 nmol/min/ml High levels of Lp-PLA2 are consistently linked to higher risk of heart attack and stroke in multiple population based studies*. Individuals with an elevated PLAC Test result who have two or more other risk factors are at 2 or 3 times the risk of a cardiac event. An elevated PLAC test is an actionable tool, and may indicate a need for further investigation, more aggressive therapy, including treatment to lower LDL Cholesterol levels. Lipid lowering agents including statins are proven to reduce cardiovascular events. Knowing that there is active disease, rather than just risk, may create a greater sense of urgency for patients to become more compliant with treatment recommendations. *DiaDexus Bibliography (http://www.plactest.com/healthcare/index.html) http://www.plactest.com/healthcare/annotated-bibliography.html 18 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Biochemistry TEST 5 HIAA Albumin Alcohol (Legal) Police Blood Sample Alcohol (Medical) [Do not use alcohol swab prior to sample taking] Alcohol (Urine) Aldolase Alkaline Phosphatase Alpha 1 Antitrypsin Genotype – PI*M, PI*S, PI*Z Alpha 1 Antitrypsin (Serum) Alpha 1 Antitrypsin (Stool) ALT (Alanine Aminotransferase) Aluminium Amino Acid (Serum/Plasma) Amino Acid Quantitative (Urine) Ammonia Amylase Angiotensin Converting Enzyme CHANGE Antimullerian Hormone (Elecsys/Roche) Apolipoprotein A1 (12 hrs fasting) Apolipoprotein B (12 hrs fasting) Apolipoprotein E Arsenic (Blood) Arsenic (Urine) AST (SGOT) Bence-Jones Protein Beta 2 Microglobulin (Serum) Beta 2 Microglobulin (Urine) Bicarbonate Bilirubin (Direct/Conjugated) Bilirubin (Total/Indirect/Conjugated) Bilirubin (Urine) Bismuth BNP (NT-pro BNP) Bone Screen Bone Screen (Bloods only) C Reactive Protein C Reactive Protein (High Sensitivity) Cadmium (Blood) Cadmium (Urine) Calcium Calcium (24 hr Urine) Calcium/Creatinine Ratio CODE SAMPLE REQS TAT RU5H ALB LALC PU 1 B Police Sample 5 days 4 hrs 3 weeks ALCO G 1 4 hrs UALC ALDO ALP GENE A1AT A1AF ALT ALUM AMIN UAAQ AMMO AMY ACE AMH APOA APOB APOE ARS ARSE AST RBJP B2MG UB2M HCO3 DBIL BILI UBIL BISM BNP BONE BON2 CRP HCRP CADM URCD CA UCA CACR RU B B A 9 B RF B K B RU A (Frozen) 15 B B B B B B (fasting) A or H RU 30 B 1 x 30mls (RU) B RU B B B RU B B B CU B B B A or H RU 30 B PU RU B 4 hrs 5 days 4 hrs 3 weeks 1 day 10 days 4 hrs 7 days 7 days 7 days 4 hrs 4 hrs 4 hrs 4 hrs 3 days 3 days 5 days 5 days 5 days 4 hrs 5 days 2 days 3 days 4 hrs 4 hrs 4 hrs 1 day 5 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 5 days 5 days 4 hrs 4 hrs 4 hrs Key: See page 15 for sample taking and special handling instructions. 19 Biochemistry TEST Carbohydrate Deficient Transferrin (CDT) Cardiac Enzymes (not chest pain) CHANGE Cardiovascular Risk Profile 1 CHANGE Cardiovascular Risk Profile 2 Ceruloplasmin Chest Pain Profile Chloride Cholesterol Cholesterol (Familial Hypercholesterolaemia) Cholinesterase (Blood) Cholinesterase (Serum/Pseudo) Chromium (Blood) Chromium (Urine) Citrate (Urine) CK (MB Fraction) Cobalt (Blood) Cobalt (Serum) Cobalt (Urine) Copper (Serum) Copper (Urine) Creatine Kinase (CK, CPK) Creatinine Creatinine (Urine) Creatinine Clearance Crosslaps (Serum DPD) Cyclosporin (Monoclonal) Deoxypyridinoline (DPD) – Serum Deoxypyridinoline (DPD) – Urine Diabetic Profile 1 Diabetic Profile 2 Electrolytes Electrolytes (Urine) ELF/Enhanced Liver Fibrosis Faecal Fat (1 Day Collection) Faecal Urobilinogen Ferritin Fibrotest (Liver Fibrosis) Fructosamine Gall Stone Analysis Gamma GT Globulin Glucose Glycosylated HB 20 CODE SAMPLE REQS CDT CENZ PP10 PP11 CERU CPP CL CHO 3 days B 4 4 hrs B 3 days B B 3 days B B B C 34 1 day B STAT B 4 hrs B 4 hrs B See Genetics section, page 83 5 days H 3 days B 5 days A 5 days RU 30 CU (Frozen) 5 days 4 hrs B 5 days A 5 days B 5 days RU 30 5 days B CU 5 days 4 hrs B 4 hrs B CU 4 hrs 4 hrs B CU 4 days B 1 day A 4 days B EMU 4 days 8 hrs A G 2 days A G RU 4 hrs B CU 4 hrs 6 days B LF 6 5 days RF 5 days 4 hrs B 2 weeks B 3 days B STONE 10 days 4 hrs B 4 hrs B 4 hrs G 6 hrs A CHRC CHPS CHRO URCR UCIT CKMB COB COBB COBA COPP URCU CKNA CREA UCR CRCL SDPD CYCL SDPD DPD DIAB DIA2 ELEC UELE ELF TFFA FURO FERR FIBT FRUC RSTA GGT GLOB RBG GHB Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. TAT Biochemistry TEST Haemochromatosis HFE common mutations C282Y+H63D HbA1c HDL Cholesterol Homocysteine (Quantitative) IgG Subclasses Immunoglobulin E – Total Immunoglobulin A Immunoglobulin G Immunoglobulin M Immunoglobulins (IgG, IgM, IgA) Iron Iron Binding Capacity Iron Overload Profile Iron Status Profile Lactate (Plasma) Lactate Dehydrogenase (LDH) Lead (Blood) Lead (Urine) Lipase Lipid Profile Lipoprotein (a) Lithium (take 12 hrs after dose) Liver Fibrosis (Enhanced Liver Fibrosis ELF) Liver Fibrosis Fibrotest NEW CODE SAMPLE REQS TAT HMD A 3 days GHB HDL HOMO IGSC IGE IGA IGG IGM IMM FE TIBC IOP ISP LACT LDH LEAD URPB LIPA LIPP LPOA LITH ELF FIBT A B B 17 B B B B B B B B A A B 9 B G 16 B A RU B B B B B B 6 hrs 4 hrs 1 day 4 days 1 day 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 3 days 4 hrs 1 day 4 hrs 5 days 5 days 4 hrs 4 hrs 4 hrs 4 hrs 6 days 2 weeks Liver Function Tests LFT Lp-PLA2 (PLAC) Test (see page 18) Magnesium (Serum) Magnesium (Urine) Manganese (Serum) Mercury (Blood) Mercury (Urine) Methaqualone Microalbumin (Urine) Myeloma Screen Myoglobin (Serum) Nickel (Serum) Nickel (Urine) NMP22 (Bladder tumour) Osmolality (Serum) Osmolality (Urine) Osteoporosis Screen Oxalate (Urine) PLA2 MG URMG MANG MERC URHG METQ UMA MYEL SMYO NICK NICU NMP OSMO ROSM OPS UOXA Key: See page 15 for sample taking and special handling instructions. 9 B 4 hrs B B PU B A or H RU 1 RU RU A B G RU B B RU J 1 B RU B B PU 2 days 4 hrs 1 day 5 days 5 days 5 days 5 days 4 hrs 3 days 4 hrs 5 days 5 days 4 days 1 day 1 day 4 days 5 days 21 Biochemistry TEST Phencyclidine (PCP) Phosphate Phosphate (24 hr Urine) NEW PLAC Test (Lp-PLA2) (see page 18) Porphyrin (Blood) Porphyrins (Faeces) Porphyrins Screen (Total: Urine, Stool, Blood) Porphyrins Screen (Urine) Potassium Pregnancy (Serum) [Quantitative] Pregnancy Test (Urine) Procalcitonin Propoxyphene Protein (Urine) Protein/Creatinine Ratio (Urine) Protein Electrophoresis Protein Total (Blood) Renal Stone Analysis Salicylates Selenium (Blood) Selenium (Serum) Silver (Blood) Silver (Urine) Sodium Thiopurine Methyl Transferase Total IgE Transferrin Triglycerides Troponin T Tryptase Urate (Uric Acid) Urea Urea (Urine) Urea and Electrolytes Urea Electrolytes (Urine) Uric Acid (Urine) Uric Acid (Serum) 22 CODE SAMPLE REQS TAT DUST PHOS UPH PLA2 PORP FPOR PORS RPOR K QHCG PREG PCAL DPRO UPRT UCPR PRTE PROT RSTA SALI SELR SELE SILV USIL NA TPMT IGE TRAN TRI TROT STRY UA UREA UURE U/E UELE UURI UA RU B PU B A 3 RF 3 A RU, RF 3 RU 3 B B RU B (Frozen) 4,7 RU CU RU B B STONE B A or H B B RU B A 5 B B B B B B B CU B CU CU B 5 days 4 hrs 4 hrs 2 days 15 days 15 days 15 days 15 days 4 hrs 4 hrs 4 hrs 1 day 5 days 4 hrs 4 hrs 2-4 days 4 hrs 10 days 4 hrs 4 days 4 days 5 days 5 days 4 hrs 5 days 1 day 1 day 4 hrs 4 hrs 5 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs Urobilinogen (Urine) UURO RU 1 day Vitamin B12 (Active) Vitamin D (25-OH) VMA B12 VITD UVMA B B PU 1 1 day 4 hrs 5 days Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Biochemistry LIPID PROFILE UREA AND ELECTROLYTES Triglycerides Cholesterol HDL Cholesterol LDL Cholesterol Sodium Potassium Chloride Bicarbonate Urea Creatinine TAT LIVER FUNCTION TESTS TAT 4 4 HOURS HOURS LIPP B IRON STATUS PROFILE Iron Total Iron Binding Capacity Ferritin B Iron Status Profile Haemochromatosis Mutation H63D/C282Y) TAT 4 3 HOURS TAT HOURS DAYS ISP FBC and ESR Biochemistry Profile Protein Electrophoresis Immunoglobulins (IgA, lgG, IgM) Bence-Jones Protein AMI A: Myoglobin B: Cardiac Troponin C: CK-MB 10 C 3 DAYS A B G RU A A B 9 B TAT MYEL IOP B Multiples of the AMI cutoff limit MYELOMA SCREEN TAT 4 Unstable angina with minor myocardial damage D: Cardiac Troponin A 2 1 0 4 HOURS LFT IRON OVERLOAD PROFILE 20 TAT U/E B 5 Bilirubin ALT AST Total Protein Alkaline Phos Albumin Globulin Gamma-GT D 0 1 AMI Decision Limit URL (Upper Reference limit) 2 4 12 16 hrs hrs hrs 3 4 5 6 7 14 Days after onset of AMI Kinetic Characteristics for Chest Pain Markers BeginningPeak Duration Myoglobin 12–24 hours 7–14 days 24–36 hours Troponin CKMB 0.5–2 hours 4–8 hours 3–8 hours 5–12 hours 12–24 hours 10–18 hours Key: See page 15 for sample taking and special handling instructions. 23 Biochemistry BONE SCREEN (BLOODS ONLY) BONE SCREEN 24 hour urinary calcium 24 hour urinary phosphate Urea and Electrolytes Alkaline Phosphatase Total Protein TAT AlbuminGlobulin 4 Calcium HOURS Urea and Electrolytes Alkaline Phosphatase Total Protein Albumin Globulin Calcium Vitamin D (25 OH) HOURS TAT 4 DAYS OPS CARDIOVASCULAR RISK PROFILE 2 CHANGE 2015 TAT 3 Cholesterol Triglycerides HDL Cholesterol LDL Cholesterol Apolipoprotein A Apolipoprotein B Lipoprotein (a) Fibrinogen hsCRP Lp-PLA2 (PLAC) Test (see page 18) Homocysteine CHANGE 2015 TAT 3 DAYS DAYS PP10 PP11 B B B C 34 B B CHEST PAIN PROFILE DIABETIC PROFILE 1 DIABETIC PROFILE 2 Glucose Glycosylated Hb Myoglobin CK MB Fraction Troponin T Glucose Glycosylated Hb Microalbumin TAT TAT HOURS DAYS 8 STAT 2 DIAB CPP 24 4 B B CARDIOVASCULAR RISK PROFILE 1 B TAT B Cholesterol Triglycerides HDL Cholesterol LDL Cholesterol Apolipoprotein A Apolipoprotein B Lipoprotein (a) hsCRP Lp-PLA2 (PLAC) Test (see page 18) Alkaline Phosphatase Calcium Albumin Phosphate Serum Crosslaps (DPD) Vitamin D (25 OH) BON2 BONE B CU OSTEOPOROSIS SCREEN A G DIA2 A G RU Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Haematology All citrate samples C sent by post or with an overnight delay must be double spun and sent frozen. TEST CODE SAMPLE REQS TAT Activated Protein C Resistance Anaemia Profile Antenatal Profile Antithrombin Ill APTT/KCCT Atypical Antibody Screen (handwritten tube label) B12 (Active)/Red Cell Folate Blood Film Examination Blood Group † CD3/CD4/CD8 CD5 T+B Cells CD16 CD19 B Cells CD20 CD25 CD56 CD69/CD16/CD56 (NK Cells) Coagulation Profile 1 Coagulation Profile 2 Coombs (Direct Antiglobulin Test) (Handwritten tube label) D-Dimers Direct Antiglobulin Test (Coombs) (Handwritten tube label) DVT/Pre-travel Screen (see profile) Erythropoietin ESR Factor II Prothrombin Gene Factor V Leiden Factor VII Assay Factor VIII Assay Factor IX Assay Factor X Assay Factor XI Assay Factor XII Assay Factor XIII Assay Fibrinogen Folate (Red Cell) Folate (Serum) Full Blood Count APCR ANAE ANTE A111 KCCT AASC B12F FILM ABO LYSS CD5 CD16 CD19 CD20 CD25 CD56 CD69 CLPF CLOT C (Frozen) A A B A A 33 B B B G C (Frozen) 4,9,18 C 18 A 22,33 A B A A 22,32 A 10/Chex A 4 A 4 A 4 A 10/Chex A 10/Chex A 4 H 5,34 C 18 A C 18 3 days 2 days 3 days 3 days 4 hrs 2 days 2 days 4 hrs 2 days 1 day 1 day 1 day 1 day 2 days 2 days 1 day 2 days 4 hrs 4 hrs COOM A 22,33 2 days DDIT C 1 day COOM DVT1 ERY ESR FX2 FX5 FAC7 FAC8 F1X FX FX1 FX11 FA13 FIB RBCF FOLA FBC 4,18 4 2 days A 22,33 A A B B A A 9 A 9 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen)9,18 C 4,18 A B A 9 5 days 4 days 4 hrs 5 days 5 days 5 days 5 days 5 days 5 days 5 days 5 days 5 days 4 hrs 2 days 1 day 4 hrs †The tube’s own label must be completed by hand. This must correspond with same name and date of birth details as given on the request form. Do not affix additional computerised or hand written labels. Key: See page 15 for sample taking and special handling instructions. 25 Haematology All citrate samples C sent by post or with an overnight delay must be double spun and sent frozen. 26 TEST CODE SAMPLE REQS TAT G6PD Haematology Profile Haemoglobin Haemoglobin Electrophoresis HFE gene (Haemochromatosis) – common mutations C282Y + H63D Homocysteine (Quantitative) Hughes Syndrome INR Leishmania Blood Film Lupus Anticoagulant and Anticardiolipin Abs Lupus Anticoagulant only Lymphocyte Immunophenotyping (Leukaemia) Lymphocyte Subsets (CD3/CD4/CD8) Malarial Parasites Microfilaria Blood Film Miscarriage/Thrombotic Risk Profile Natural Killer Profile PAI1 4G/5G Polymorphism Paul Bunnell (Monospot) Plasma Viscosity Platelet Count Pre-Travel Screen (DVT) Protein C Protein S Free Ag Prothrombin Time Prothrombin Time + Dose Reticulocyte Count Sickle Cells Thalassaemia Screen Thrombotic Risk Profile Viscosity (Plasma) Vitamin B12 (Active) Vitamin B12 (Active) / Red Cell Folate Von Willebrand Profile G6PD PP3 HB HBEL A A A A 5 days 4 hrs 4 hrs 4 days HMD A 9 3 days HOMO LUPA PTIM LEIF LUPA LUPC LYPT LYSS MALP MICF PROP NK1 PAIP PAUL VISC PLTS DVT1 PRC FPRS PTIM PT+D RETC SICK THSC PROP VISC B12 B12F FVWF B B C 4,18 C 18 A B C 4,18 C C 18 A 4,5 A 10/Chex A 4,9,14 A A A B C C C 18 A A H 10 A A or B A 4 A A A B 9 C (Frozen) 4,9,18 C (Frozen) 4,9,18 C 18 C 18 A A A A A B C C C 18 A 4 B A B C (Frozen) 4,12 1 day 2 days 4 hrs 8 hrs 2 days 2 days 5 days 2 days STAT STAT 5 days 2 days 10 days 8 hrs 3 days 4 hrs 5 days 3 days 3 days 4 hrs 4 hrs 4 hrs 4 days 4 days 5 days 3 days 1 day 2 days 5 days 17 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Haematology HAEMATOLOGY PROFILE COAGULATION PROFILE 1 FBC + 5 part Diff ESR COAGULATION PROFILE 2 Prothrombin Time APTT Fibrinogen FBC + 5 part Diff Prothrombin Time APTT Fibrinogen TAT TAT HOURS HOURS HOURS CLPF CLOT 4 4 PP3 ANAEMIA PROFILE PRE-TRAVEL SCREEN (DVT) FBC + 5 part Diff ESR Iron, TIBC Ferritin B12 (Active) Folate (RBC) TAT 2 4 A C 18 C 18 A TAT FBC Factor II Prothrombin Gene Factor V Leiden Anticardiolipin TAT Antibodies VON WILLEBRAND PROFILE Von Willebrand Factor Von Willebrand Activity (Ristocetin Cofactor) Factor VIII Assay TAT 5 5 DAYS DAYS DAYS ANAE DVT1 FVWF C 4,12 A A B 9 A A B THROMBOTIC RISK PROFILE ANTENATAL PROFILE NATURAL KILLER PROFILE FBC + 5 part Diff Blood Group and Rh Type Atypical Antibody Screen Haemoglobin electrophoresis Syphilis IgG/IgM Glucose FT4/TSH Rubella Antibodies (IgG) Toxoplasma (IgG/IgM) Hepatitis B sAg Hep C Abs Varicella Zoster IgG (Immunity) HIV 1 & 2 Abs FBC Coagulation Profile Antithrombin III Factor V Leiden gene Factor II Prothrombin gene MTHFR gene Fibrinogen Lupus Anticoagulant Protein C Free Protein S Ag Anticardiolipin Abs CD3 CD4 CD5 CD8 CD16 CD19 CD56 CD69 TAT 3 DAYS TAT 5 DAYS PROP A A B C C C 18 Please ensure the blood group (EDTA) tube label is HANDWRITTEN. Do not affix a secondary label. TAT 2 DAYS ANTE A A 33 B B B G Key: See page 15 for sample taking and special handling instructions. NK1 A A H 10 27 Microbiology Please refer to the website (www.tdlpathology.com) for a list of factors that may affect microbiology test performance and for special instruction for sample collection, transportation and handling. TEST CODE Blood Culture Chlamydia trachomatis by PCR (Swab) Chlamydia trachomatis by PCR (Thin Prep) Chlamydia trachomatis by PCR (Urine) Chlamydia trachomatis by PCR (Semen) Clostridium Difficile Toxin Cryptococcal Antigen Cryptosporidium CSF for Microscopy and Culture Faecal Occult Blood/FOB (immunochemical/FIT) Fluid Culture Fluid for Crystals Food Microbiology Fungal ID + Sens Group B Strep Gonorrhoea by Culture HVS (inc. Mycoplasma + Ureaplasma) IUCD for Culture Legionella Urine Antigen MRSA (Rapid PCR) one swab per site MRSA Culture one swab per site Mycology/Skin Scrapings Mycoplasma/Ureaplasma Culture Nail Clippings Pleural Fluid for Culture Pneumococcal Antigen Pneumocystis Examination Rapid Strep (incl. m/c/s) Rotavirus in Stool BCUL SPCR TPCR CPCR UPCR CLOS CRYC CRPO CSF FOB FLUD FLU2 FOOD FUID GBS GONN HVS IUCD LEGA MRSA MRSW SKSC MYCS SKSC FLUP PNAG PCYS RAPS ROTA Schistosoma (Urine) USCH Sellotape Test Semen Analysis Semen Culture Skin Scrapings/Mycology Specific Gravity (Urine) Sputum for Routine Culture Sputum for TB Culture (AFB) SELL SPCU SKSC USG SPU1 SPU2 SAMPLE REQS TAT 2x BC 5 days + PCR 2 days TPV 5 days FCRU 2 days Semen 5 days RF* 2 days Serum or CSF 1 day RF 2 days CSF 2-3 days RF 1 day SC 2-7 days SC 1 day Submit sample 10 days Fungal sample/STM 14 days 2x STM 3 days STM 2-3 days STM 2-3 days Send Device 10 days RU 1 day Blue Micro Swab 4 hrs Blue Micro Swab 2 days Submit Sample 3-4 weeks RU,Swab 2-3 days Nail clippings 3-4 weeks SC 2 days RU 1 day BAL* 1 day STM** 2 days** RF 8 hrs Mid-morning 8 hrs terminal urine Send Sample*** 1 day see Andrology page 40 Semen 2-3 days Send Sample 3-4 weeks RU 8 hrs SC 2-3 days SC up to 8 weeks 4 * Not performed on formed stool specimens. ** Do not use a black swab for RAPS. Use Blue only. Rapid antigen is reported within 4hrs with full culture to follow. *** Use clear Sellotape only and attach to slide. 28 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Microbiology TEST CODE Stool for OCP and Culture Stool for OVA Cysts & Parasites Swab for Culture (Any Site) Synovial Fluid (For Crystals) TB (pleuralfluid) TB Culture TB Culture (Urine) SPAR OCP SWAB FLU2 TBCU SPU2 TBUR TB Slopes – Confirmation and Sensitivity TBSL Tissue for culture Ureaplasma/Mycoplasma Culture Urine (Microscopy Only) Urine for Microscopy and Culture TISS MYCS UMIC UCEM SAMPLE REQS TAT RF RF STM SC SC SC 3x EMU TB slope (LJ medium-green) 6 Tissue sample RU,Swab RU RU 2-3 days 1 day 2-3 days 1 day up to 8 weeks up to 8 weeks up to 8 weeks up to 8 weeks up to 7 days 2-3 days 1 day 1-2 days * BAL: Induced sputum or bronchoalveolar larage GROUP B STREPTOCOCCUS (GBS) GBS is recognised as the primary cause of bacterial infection in new-born babies, resulting in disease at birth and up to 3 months of age. GBS is a normal body commensal. Normally GBS is harmless and needs no treatment. However, for a pregnant woman, positive for GBS at the time of delivery, intravenous antibiotics are effective against GBS infection that can affect new-born babies. 2 Blue culture swabs (low vaginal and rectal) should ideally be taken from 35 weeks. Key: See page 15 for sample taking and special handling instructions. 29 Microbiology Swabs: Types and Codes Patient Request Forms AND Swabs should be labelled with the body site from which the sample was taken. This is important. The swab site determines the appropriate culture media required to target the most likely pathogens. SITE CODE SAMPLE TYPE Culture Swabs Cervical SwabCERS Blue Micro Swab Eye SwabEYES Blue or Orange Micro Swab Ear SwabEARS Blue or Orange Micro Swab GonorrhoeaGONN Blue Micro Swab High Vaginal SwabHVS Blue Micro Swab Nasal SwabNASS Blue or Orange Micro Swab Oral SwabORSW Blue Micro Swab Penile SwabPENS Orange Micro Swab Rectal SwabRECG Blue Micro Swab Skin SwabSKIS Blue Micro Swab Throat Swab THRS Blue Micro Swab Urethral SwabURES Orange Micro Swab Vaginal SwabVAGS Blue Micro Swab Vulval SwabVULV Blue Micro Swab Wound SwabWOUS Blue Micro Swab Blue Micro/Transwab are multipurpose, culture swabs in transport medium Orange Micro/Transwab are small, thin wire culture swabs in transport medium PCR swabs are also known as DRY SWABS Female/Purple DRY PCR swab Male/Blue DRY PCR swab MRSA by Culture MRSW Blue Micro Swab x 1 – state site MRW2 Blue Micro Swab x 2 – state sites MRW3 Blue Micro Swab x 3 – state sites MRW4 Blue Micro Swab x 4 – state sites MRW5 Blue Micro Swab x 5 – state sites RAPID MRSA by PCRMRSA Blue Micro Swab x 1 – state site MRS2 Blue Micro Swab x 2 – state sites Note: This PCR methodology uses MRS3 Blue Micro Swab x 3 – state sites culture swabs MRS4 Blue Micro Swab x 4 – state sites MRS5 Blue Micro Swab x 5 – state sites PCR Swabs/Not Culture (First Catch Urine or Thin Prep Vial can also be used as alternative sample types for these tests). Chlamydia Chlamydia/Gonorrhoea Herpes Simplex I/II SPCR SCG HERS PCR Dry Swab (Blue / Purple) PCR Dry Swab (Blue / Purple) PCR Dry Swab (Blue / Purple) DL12 (7 STIs by PCR) Viral Eye Swab Viral Skin Swab DL12 VPE VPSK PCR Dry Swab (Blue / Purple) PCR Dry Swab (Blue – Thin wire) PCR Dry Swab (Blue – Thin wire) H1N1 Swabs Swine H1N1 FluH1N1 Blue (Thin wire) PCR Dry Swab x 2 (nose and throat) Double Bagged and marked as High Risk 30 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Endocrinology TEST 17 Hydroxyprogesterone ACTH (Adreno Corticotrophic Hormone) Aldosterone Alpha Feto Protein Amenorrhoea Profile Andropause Profile Androstenedione Antimullerian Hormone [Elecsys/Roche] CHANGE (see page 34) Beta HCG (Quantitative) BNP (NT-pro BNP) C Peptide Calcitonin Catecholamines (Plasma) Catecholamines (Urine) Cortisol Cortisol (Urine) DHEA DHEA Sulphate Dihydrotestosterone Down Syndrome Risk Bloods only (Risk to be calculated by clinician) Down Syndrome Risk Profile with risk calculation first trimester Down Syndrome Risk Profile (2nd trimester) Quad Erectile Dysfunction Profile Female Hormone Profile First Trimester Antenatal Screen Free T3 Free T4 FSH Growth Hormone (Fasting) Hirsutism Profile HRT Profile 1 HRT Profile 2 IGF-1 (Somatomedin) IGF-BP3 Impotence Profile Male Hormone Profile Inhibin B Insulin Insulin Resistance (Fasting) Luteinising Hormone (LH) Macroprolactin CODE SAMPLE REQS TAT 17OH ACTH ALDN AFP AMEN ANDP ANDR B J 1 B B B B B B (Frozen) 5 days 1 day 5 days 4 hrs 4 hrs 8 hrs 1 day AMH B 4 hrs QHCG BNP CPEP CATO CATE UCAT CORT UCOR DHEX DHEA DHT B B B B (Frozen) 4 A A (Plasma Frozen) 4 PU1 B CU B B B B 4 hrs 4 hrs 3 days 1 day 5 days 5 days 4 hrs 5 days 7-10 days 4 hrs 7 days B 4 hrs HCGF/PAPA DRP DRP IMPO FIP HCGF/PAPA FT3 FT4 FSH GH HIRP HRT HRT2 SOMA IGF3 IMPO MIPR INIB INSU FIRI LH PRLD B,DRP form + image of scan 7,8 B,DRP form 7,8 A B B G B B B B B B 7,35 B B B G B (Frozen) 4 B (Frozen) 4 A B B G B B (Day 3 of cycle,frozen) B B G B B Key: See page 15 for sample taking and special handling instructions. 2 days 2 days 3 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 1 day 5 days 3 days 4 hrs 5 days 4 hrs 4 hrs 4 hrs 4 days 31 Endocrinology 32 TEST CODE Menopause Profile Metabolic Syndrome Profile Metanephrines (Plasma) Metanephrines (Urine) Oestradiol (E2) Oestriol (Estriol) Oestrone Osteocalcin Parathyroid Hormone (Whole) Pituitary Function Profile Polycystic Ovary Syndrome Profile Pregnancy (Serum) [Quantitative] Pregnenolone Progesterone Proinsulin Prolactin Prolactin (Macro) Renin Reverse T3 Serotonin Sex Hormone Binding Globulin Somatomedin (IGF-1) T3 T3 (Reverse) Testosterone Testosterone (Free) Thyroglobulin Abs Thyroglobulin Assay Thyroid Abs (incl. TGAB + TPEX) Thyroid Peroxidase Thyroid Profile 1 Thyroid Profile 2 Thyroid Profile 3 Thyroxine (T4) TSH TSH-Receptor Antibodies MENO METS PMET UMEX OEST E3 E1 OST PTHI PITF PCOP QHCG PREN PROG PROI PROL PRLD RENI RT3 SERT SHBG SOMA T3 RT3 TEST FTES TGAB TGA THAB TPEX TF TF2 TF3 T4 TSH TSI SAMPLE REQS TAT B A B B G A (Frozen plasma) PU 1 B B B B B B (Frozen) 4 B 4 B B A B B B G 7 B B B B (Frozen) B B A (Frozen plasma) 36 B 7,37 H (Frozen whole blood) 1 B B (Frozen) 4 B B 7,37 B B B B B B B B B B B B 4 hrs 9 days 7 days 5 days 4 hrs 4 days 4 days 4 days 1 day 1 day 5 days 4 hrs 5 days 4 hrs 5 days 4 hrs 4 days 5 days 10 days 10 days 4 hrs 1 day 4 hrs 10 days 4 hrs 3 days 1 day 1 day 1 day 1 day 4 hrs 2 days 4 hrs 4 hrs 4 hrs 4 days Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Endocrinology REPRODUCTIVE IMMUNOLOGY AT ST HELIER, CARSHALTON CODE TEST SAMPLE REQS TAT CD69 HSNK 69C NK (CD69) cell Assay NK Cytotoxicity Assay NK (CD69) and NK Cytotoxicity NK Cytotoxicity w.suppression, steroid, IVIg & Intralipin NK Cytotoxicity with suppression with steroid, IVIg and intralipin, and NK (CD69) cell assay TH1/TH2 cytokine profile Suppression with steroid, IVIg and intralipin, NK (CD69) cell assay, TH1/TH2 cytokines H HHH 5,34 HHH 5,34 Send Mon-Thurs only Send Mon-Thurs only Send Mon-Thurs only HHH 5,34 Send Mon-Thurs only HHH 5,34 Send Mon-Thurs only HHH 5,34 Send Mon-Thurs only HHH Send Mon-Thurs only NKCY 69CI 1TH2 NCIT 5,34 5,34 Patients need to attend Patient Reception at 76 Wimpole Street by 11.00am latest Mondays – Fridays. Samples cannot be accepted on Saturdays/Sundays. Allow 2 days for results. REPRODUCTIVE IMMUNOLOGY AT ROSALIND FRANKLIN LABORATORIES, CHICAGO, USA CODE TEST SAMPLE REQS TAT 3RF 4RF 5RF 6RF 7RF 8RF 9RF 10RF 11RF 15RF 16RF 17RF 18RF Reproductive Immunophenotype Panel NK Assay/Cytotoxicity Panel NK Assay Follow-Up Panel TH1/TH2 Cytokine Ratio Leucocyte Antibody Detection MALE Leucocyte Antibody Detection FEMALE HLA DR Antigens HLA DQ Alpha Antigens HLA DQ Beta Antigens NK Assay Endometrial Biopsy (tissue) NK Assay Panel + Intralipids KIR (Killer-like Immunoglobulin-like Receptors) Genotyping Endothelial Nitric Oxide Synthase (eNOS) 8-786C mutation Endothelial Nitric Oxide Synthase (eNOS) G894T (Glu294Asp) mutation H H H H H H H H H H H H 5 H H H 3,4,6 B 3,4,6 A A A A A A Tissue H H H A A A A A A 1 week 1 week 1 week 1 week 1 week 1 week 2 weeks 2 weeks 2 weeks 2 weeks 1 week 2-3 weeks 2 weeks A A A 2 weeks 19RF Patients who have samples taken at TDL’s Patient Reception at 76 Wimpole Street may attend any time during hours of opening on Mondays or Tuesdays, and by NOON on Wednesdays to allow for same day shipping to Chicago by Fed Ex. Samples for Rosalind Franklin are not accepted on Thursdays, Fridays or Saturdays. Fed Ex charges are included in these charges. Key: See page 15 for sample taking and special handling instructions. 33 Endocrinology THYROID PROFILE 1 FT4 TSH THYROID PROFILE 2 TAT 4 T4 Free T3 TSH Free T4 Thyroid Antibodies TAT 2 B FEMALE HORMONE PROFILE TAT 4 HOURS FSH LH Testosterone Free Androgen Index Prolactin SHBG TAT 4 HOURS Lipid Profile Glucose HbA1C TSH Prolactin Total Testosterone Free Testosterone PSA TF3 ANDROPAUSE PROFILE DHEAs FSH Testosterone Free Androgen Index LH SHBG TAT 8 HOURS MIPR B ERECTILE DYSFUNCTION/ IMPOTENCE PROFILE 4 HOURS B MALE HORMONE PROFILE FIP B TAT TF2 TF LH FSH Prolactin Oestradiol (17-Beta) FT3 FT4 TSH DAYS HOURS B THYROID PROFILE 3 ANDP B B ANTIMULLERIAN HORMONE (AMH) On the 3rd November 2014 the laboratory methodology was changed from the Beckman Coulter AMH Gen II assay to the fully automated Roche Elecsys AMH Assay. Roche values are expected to be 25% lower. Therefore for direct comparison between the two methods, any results prior to the 3rd November 2014 should be multiplied by 0.75 (x 0.75). The need for this calculation is clearly shown with each result. TAT 3 DAYS IMPO A B B G Age related reference intervals in women The reference intervals below are derived from a population of apparently healthy women not taking any contraceptive medication. The reference intervals represent the 10th – 90th percentile values for the women in each age bracket. CHANGE 2015 TAT 4 HOURS Age Range Elecsys AMH (pmol/L) 20 – 29 years 13.1 – 53.8 30 – 34 years 6.8 – 47.8 35 – 39 years 5.5 – 37.4 40 – 44 years 0.7 – 21.2 45 – 50 years 0.3 – 14.7 More Hormone Profiles are shown on page 32 AMH can be taken, at any time during a patient’s monthly cycle. Ambient, unspun B Samples sample stability has been validated for up to 5 days. Postal samples are therefore acceptable, and samples can also be collected and posted using TDL TINIES. 34 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Endocrinology HRT PROFILE 1 HRT PROFILE 2 FSH Oestradiol (17-Beta) Progesterone TAT Lipid Profile Glucose FT4 TSH FSH OEST LH FSH Prolactin Oestradiol (17-Beta) TAT TAT HOURS HOURS HOURS HRT HRT2 AMEN 4 B 4 BG PITUITARY FUNCTION PROFILE TSH FSH LH Prolactin Growth Hormone Cortisol Please provide details of time of day sample is taken. Patient should be TAT resting for 30 mins before sample taking. DAY B Lipid Profile Glucose HbA1C Insulin CRP hsCRP Adiponectin 9 METS A B B G FIRST TRIMESTER SCREENING BLOODS ONLY (Risk to be calculated by requesting clinician) FSH LH Testosterone DHEAs SHBG Free β-hCG PAPP-A Free β-hCG and PAPP-A in serum and sonographic determination of nuchal translucency (NT) are markers of choice to identify women at increased risk of Down Syndrome during the first trimester (week 11-13) of pregnancy. TAT TAT HOURS HOURS HIRP HCGF / PAPA 4 4 TAT 4 HOURS MENO DAYS HIRSUTISM PROFILE MENOPAUSE PROFILE FSH LH Oestradiol (17-Beta) TSH FT4 TAT PITF B B 4 METABOLIC SYNDROME PROFILE 1 B AMENORRHOEA PROFILE B Key: See page 15 for sample taking and special handling instructions. B POLYCYSTIC OVARY SYNDROME PROFILE Testosterone TSH Glucose HbA1C FSH DHEAs Insulin LH 17 Hydroxyprogesterone Lipid Profile Prolactin Cortisol Antimullerian Hormone Androstenedione SHBG A fasting 9.00am sample is recommended. TAT 5 DAYS PCOP A B B B G 7 35 Reproductive health The tests in this section are drawn from all disciplines of diagnostic pathology and are listed in other appropriate sections in the Laboratory Guide. PUBERTY The beginning of the reproductive cycle of life – diagnosis tests may include: LH •Oestradiol Oestradiol •FSH FSH •LH Progesterone •Progesterone •Androstenedione • DHEA sulphate •Testosterone •SHBG Day1 Menstruation •Prolactin Day 14 Ovulation Follicular Phase Day 28 Menstruation Luteal Phase THE MENSTRUAL CYCLE/PREGNANCY This cycle controls female fertility and is influenced by hormone levels which impact bone health and many other aspects of female physiology. Pregnancy lasts 40 weeks and is divided into trimesters. First Trimester (week 0–13): confirmation of pregnancy and associated tests may include: • Pregnancy test (urine) • Quantitated Beta HCG (serum) • Ectopic Pregnancy assessment (Beta HCG and Progesterone) • Recurrent Miscarriage Profile • Antenatal Screen • Nuchal Scan with Free Beta HCG and PAPP-A or Non-Invasive Prenatal (NIPT) for risk assessment of Downs Risk (a DRP request form must be enclosed with samples, see back of guide, and an image of the scan attached to the request form). Contact TDL Genetics for details of Non-Invasive Prenatal Testing (NIPT) • Chorionic Villus Sampling (CVS) for chromosomal analysis (PCR for Rapid Trisomy and karyotyping for the rarer abnormalities) • Toxoplasma/Varicella Zoster/Parvovirus/CMV 36 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Reproductive health Second Trimester (week 14–26): testing is primarily directed at evaluating the actual and potential development of the baby and may include: Third Trimester (week 27–40): testing for foetal wellbeing and the health of the mother may include: • Downs Risk Profile (Triple Test +) •Toxoplasma • Amniocentesis for chromosomal analysis (AmnioPCR for Rapid Trisomy and karyotyping for the rarer abnormalities) • Atypical antibody screening • Glucose and Protein (urine or serum) • Glucose and Protein (urine or serum) • Group B Strep (35-37 weeks – rectal and low vaginal swabs) •Chlamydia INFERTILITY Infertility and its management is increasingly implicated in growing numbers of clinical disciplines. More recently, greater emphasis is being given to male infertility. Recent data suggests that approximately 40% of all infertility is ascribed entirely, or in part, to male factors, 40% to female factors with an additional 20% unexplained. Testing at the outset of infertility treatment can reduce some of the emotional and financial costs, as well as allowing couples to pursue other possible options. •Hormones • Infection •Lifestyle/Environmental • Chromosomes/Genetics • Ovarian Reserve • Polycystic Ovary Syndrome • Unexplained Infertility/Implantation failure • Recurrent/Spontaneous miscarriage • Male Factors AGEING Reaching menopause and andropause is a gradual process with modulating hormones as ovarian function declines in women, and the more gradual, less defined and highly variable effect in men. Testing may include: • Hormones (Menopause/Andropause Profile) • Testosterone/Free testosterone/ Bioavailable Testosterone •SHBG •DHEAs General patterns of age-related decline in estradiol levels in women (left) and total testosterone levels in men (right) • Thyroid function • Osteoporosis/Bone Markers Key: See page 15 for sample taking and special handling instructions. 37 Reproductive health INFERTILITY HORMONES FEMALE MALE Testosterone/Prolactin/FSH/LH Sex Hormone Binding Globulin Inhibin B (male) Male Hormone Profile Andropause Profile Insulin Resistance Erectile Dysfunction Impotence Profile FSH – day 2/3 LH Oestradiol Antimullerian Hormone (AMH) Progesterone – day 21 Female Hormone Profile Prolactin Ovarian Reserve Profile INFECTION FEMALE MALE High Vaginal swab Cervical swab Bacterial Vaginosis screen Toxoplasma Chlamydia/Gonorrhoea CMV Syphilis Hep B sAg/Hep B Core Abs/Hep C/HIV 1&2 Herpes Simplex I/II by PCR STI Profiles Infection screening by PCR Investigations for prostatitis/urethritis Mycoplasma Genitalium Ureaplasma Chlamydia/Gonorrhoea Chlamydia in Semen Hep B sAg/Hep B Core Abs/Hep C/HIV 1&2 Herpes Simplex I/II by PCR Semen culture Syphilis STI Profiles Infection screening by PCR LIFESTYLE /ENVIRONMENT FEMALE Well Person Profile DL6 Zinc, Lead Trace Metal Profile (blood) Antioxidant Activity Thyroid Profiles Vitamin Profiles Vitamin D (25 OH) Folate Selenium Omega 3/Omega 6 38 MALE Fit for Fertility Male Profile Well Person Profile DL6 Trace Metal Profile (blood) Antioxidant Activity Thyroid Profiles Vitamin Profiles Vitamin D (25 OH) Folate Selenium Zinc Omega 3/Omega 6 Oxidative Stress (ROS) in Semen Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Reproductive health CHROMOSOMES/GENETICS FEMALE MALE Chromosome/Karyotype (parental) Male Hormone Profile Y-Chromosome microdeletion Fragile X Male Cystic Fibrosis Screen Tay Sachs Jewish Carrier Profile Inherited disorders (specific) Chromosome/Karyotype (parental) Fragile X (female) Cystic Fibrosis Screen Tay Sachs Jewish Carrier Profile Inherited disorders (specific) OVARIAN TUMOUR FEMALE Antimullerian Hormone (AMH) CA 125 / HE4 POLYCYSTIC OVARY SYNDROME FEMALE Polycystic Ovary Profile UNEXPLAINED INFERTILITY/IMPLANTATION FAILURE /RECURRENT MISCARRIAGE FEMALE MALE Recurrent Miscarriage Profile Reproductive Immunophenotyping (CD 3/4/8, CD 5/19, CD 16/56/69) NK Cell Profile Antiphosholipid Antibodies Lupus anticoagulant and Anticardiolipin Antibodies Thrombotic Profile Antinuclear antibodies Anti-Thyroglobulin Antibodies Anti Microsomal Antibodies Chromosome/Karyotype (parental) Infection screening (See Infection) Chromosome/Karyotype (parental) Y-Chromosome microdeletion Sperm DNA Fragmentation Sperm aneuploidy Infection screening (See Infection) Heavy Metals (Blood) Male Recurrent Miscarriage Profile Oxidative Stress in Semen (Reactive Oxygen Species) SPERM HEALTH MALE See TDL Andrology on page 40. Key: See page 15 for sample taking and special handling instructions. 39 TDL Andrology The single most important factor determining a man’s fertility potential is the production of healthy sperm. A semen analysis has classically been used as the marker of this potential, by providing information about the sperm count, motility and morphology. However, there are other parameters given in a semen analysis that are often neglected or overlooked, which may indicate important pathologies – such as infection, prostatic disease, immunological infertility, retrograde ejaculation, malformation or obstruction of the genital tract, tumour, and congenital or endocrine disorders. Early diagnosis of the male factor is important in order to detect any underlying pathology, determine the extent of infertility and ensure appropriate treatment. It may also avoid unnecessary investigations for the female partner, particularly if her age is a limiting factor. For men who have had a vasectomy, clearance should only be given when there is no evidence of presence of sperm in two consecutive semen samples. It is therefore vital to ensure that results are reported according to best practice guidelines. Special clearance may be given at the doctor’s discretion when there are persistent non-motile sperm present. Guidelines for Producing Samples Ideally semen samples should be produced on-site at TDL’s Patient Reception at 76 Wimpole Street. Ideally patients must abstain from ejaculation for 2-3 days prior to the test, but no less than 2 days and no longer than 5 days before the test. This requirement is important for semen analyses and post vasectomy analyses to ensure reliability of results. It is possible that samples that do not comply with guidelines for abstinence and collection may not be able to be processed. All semen samples must be produced directly into the sterile containers provided by The Doctors Laboratory. All containers are weighed and batch tested for sperm cytotoxicity. In exceptional circumstances when semen samples are produced off-site, they can only be accepted by the Andrology Department in sample containers provided by TDL. WHO 2010 guidelines state that two semen analyses should be performed before any diagnosis is confirmed. This may require requests for two (separate) semen analyses. Appointments It is important to make an appointment for all semen samples (on or off site) whether for a comprehensive semen analysis or post vasectomy analysis. It may be necessary to give patients who attend without an appointment a specific time to re-attend. The first appointments for post vasectomy samples should usually be 16 weeks and 24 ejaculations after surgery. Practices or Patients should contact TDL Andrology to arrange an appointment and confirm instructions for sample collection (There is a charge in addition to pathology charges). Appointments can be made by calling 020 7025 7940. Times for semen sample collections are different to normal hours: Monday to Friday: 8.00am – 5.00pm Saturday: 9.00am – 3.00pm Please complete a Pathology Request Form for your patient. If you would like to request other pathology, you can use the same form or complete a second additional form. Results will usually be reported to you within 48 hours. If you would like to discuss these tests, or any aspect of this service, please contact TDL Andrology on 020 7025 7940 or email [email protected] for further information. 40 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. TDL Andrology SEMEN TEST CODE SAMPLE REQS TAT Semen Analysis, Comprehensive Semen Analysis, Vasectomy Reversal Semen Analysis, Post-Vasectomy** SPER SPER PVAS SPCU SPCF PMNS ASAB ASPA SPPL SEXT MRPH SROS RTRO Semen Semen 1 Semen 1 Semen Semen Semen B Semen Semen 1 Semen 1 Semen 1 Semen 1 Contact Lab 2 days* 2 days* 2 days 2-3 days 2 days 2 days 5 days 1 day 4-6 weeks 2-3 weeks 2 days 1 day 2 days Semen Culture Semen Fructose Semen Leucocytes Sperm Antibodies (Serum)† Sperm Antibodies /MAR Test (Semen) Sperm Aneuploidy (FISH) Sperm DNA Fragmentation (SCSA) Sperm Morphology (Kruger strict criteria) Oxidative Stress in Semen (ROS) Retrograde Ejaculation 1 Semen parameters may be requested INDIVIDUALLY (eg count only, vitality only, etc). Please request as SPOD and indicate on the request form which parameter is required. Semen Parameters SPOD Semen 1 1 day * If required,comprehensive semen analysis can be reported within 4 hrs, with morphology to follow. **British Andrology Society guidelines state that a minimum of two tests should be performed before clearance may be given. † Sperm antibodies in semen are measured as part of the routine semen analysis. BY SPECIAL ARRANGEMENT Sperm swim test Sperm preparation for overnight survival Sperm motility and vitality testing for epididymal toxicity Sperm retrieval procedures (biopsy, PESA, MESA) Sperm cryopreservation and storage (undertaken by Andrology Solutions – HFEA and EUTD licensed) All men who store sperm must be screened for HIV 1&2, Hepatitis B, Hepatitis C and HTLV. Under HFEA regulations, sperm can be stored for an initial period of 10 years with formal consent. All patients are offered counselling prior to sperm cryopreservation. These arrangements, and details for other specialist semen tests, are available on request. Please contact TDL Andrology on 020 7025 7940 or email [email protected] for further information. Key: See page 15 for sample taking and special handling instructions. 41 TDL Andrology Information about Sperm DNA Sperm DNA or aneuploidy are not part of the Comprehensive Semen Analysis and needs to be requested as a separate test. Samples need to be frozen as soon as possible after liquefaction. If these are prepared by another laboratory, two cryovials containing not less than 0.25mls of liquefied, raw semen is required. Frozen samples can be sent to or collected by TDL, by arrangement, and must be accompanied with relevant patient details, and the sperm count. A count of a minimum 1 million/ml is required for accurate DNA and aneuploidy reporting. Results for DNA fragmentation analysis The results are reported as follows: DNA Fragmentation Index (%DFI; % sperm cells containing measurable DNA damage) _< 15% DFI = Excellent to good sperm DNA integrity > 15 to < 25% DFI = Good to fair sperm DNA integrity > 25 to < 50% DFI = Fair to poor sperm DNA integrity _> 50% DFI = Very poor sperm DNA integrity The above values relate to natural and IUI conceptions. When % DFI is above 25%, current literature suggests that the patient either try to reduce that number by medical intervention or change of lifestyle, or skipping IUI and go on to IVF/ICSI for greatest success. (www.scsatest.com for details). Hypothesis: A high ratio of moderate DFI to high DFI sperm may be the most negative since moderate DFI sperm have normal nuclear morphology and will likely fertilise but may have DNA damage beyond repair capacity of eggs. High DNA stainability (HDS): % sperm with immature chromatin and abnormal proteins; levels in the > 25% range are considered negative for pregnancy outcome. If you would like to discuss these tests, or any aspect of this service, please contact TDL Andrology on 020 7307 7373 or 020 7025 7940, or email [email protected]. Oxidative Stress in Semen (ROS) and Male Infertility Almost 50% of all cases of infertility may be associated with a male factor. Although a semen analysis has classically been used as the gold standard for determining a man’s fertility, this test may not detect abnormalities at the molecular level. These abnormalities may contribute to the 25% of infertility cases that remain unexplained. There is growing evidence to support a link between oxidative stress and male infertility. Reactive oxygen species (ROS) are generated by human sperm as part of their normal metabolism. At low levels, ROS enhance sperm performance and are maintained at low levels by effective anti-oxidant pathways. However, if the production of ROS overwhelms the capacity of these anti-oxidant pathways then oxidative stress occurs, leading to pathological effects. Reference Vessey, W., Perez-Miranda, A., Macfarquhar, R., Agarwal, A., Homa, S., 2014. Reactive oxygen species (ROS) in human semen: validation and qualification of a chemiluminescence assay. Fertil Steril (in press). 42 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. TDL Andrology Effects of ROS-induced Oxidative Stress on Sperm • Lipid peroxidation which damages the sperm surface causing an abnormal morphology and impaired motility. • Damage to proteins on cell surface responsible for cell signalling and may affect enzyme function inside the cell. • Increased semen viscosity. • Peroxidation of DNA and subsequent unravelling or fragmentation. • Possible mutagenic effects. • Damage to seminiferous epithelium, damage to tubules, testicular atrophy, reduced spermatogenesis. • Decrease in sperm vitality. • Impaired fertilization by affecting sperm capacitation and the acrosome reaction. Causes of Elevated ROS Levels • Genito-urinary tract infection •Prostatitis • Vasectomy reversal •Varicocoele •Cryptorchidism • Chronic disease •Xenobiotics • Chemical pollutants and occupational hazards • Heavy metal exposure • Removal of seminal plasma during sperm preparation for assisted conception • Drugs – cyclophosphamide, aspirin, paracetamol •Smoking • Excessive exercise • Heat exposure •Obesity •Age Semen samples need specialist handling – for this reason all requests for semen analyses should be made by appointment. Practices or patients should contact TDL Andrology on 020 7025 7940 to make appointments and to confirm instructions for sample collection. MALE HORMONE PROFILE FSH LH Testosterone Free Androgen Index Prolactin SHBG MALE RECURRENT MISCARRIAGE PROFILE Sperm DNA Fragmentation (SCSA) Sperm Aneuploidy (FISH) Infection Screen (PP12) TAT Chromosome Analysis Y Chromosome Microdeletion Cystic Fibrosis Carrier Screen (139 mutations) PolyT – 5T, 7T, 9T (Reported if cinically relevant) TAT 4 B MALE GENETIC REPRODUCTIVE PROFILE TAT 15 HOURS DAYS MIPR MRMP Semen Key: See page 15 for sample taking and special handling instructions. 15 DAYS GRP A H 9 43 44 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Sexual health TEST CODE SAMPLE REQS TAT 7 STI’s by PCR PP12 FCRU/PCR/TPV 2 days Chlamydia (PCR swab) Chlamydia (Thin Prep) Chlamydia (Urine) SPCR TPCR CPCR PCR TPV FCRU 2 days 5 days 2 days Early Detection Screen (10 days post exposure) Early Detection Screen with Syphilis STDX STXX A 10mls or 2 x 4mls B A 10mls or 2 x 4mls 3 days 3 days GONN SGON TGON CGON SCG TCG CCG TSCG RSCG GVPC HEPA AUAG HCAG HEPC HERS HERD HDUO STDX STM PCR TPV FCRU PCR TPV FCRU PCR PCR FCRU / PCR / TPV B B B B PCR FCRU / PCR / TPV B A 10mls or 2 x 4mls 2-3 days 2 days 5 days 2 days 2 days 5 days 2 days 2 days 2 days 5 days 4 hrs 4 hrs 4 hrs 4 hrs 5 days 5 days 4 hrs 3 days STXX B A 10mls or 2 x 4mls 3 days HP20 HPVT HPV MGEN SWAB SYPS SERJ TVAG TVPC UGEN PCR / TPV TPV TPV FCRU / PCR / TPV STM PCR B Blue Micro Swab FCRU / PCR / TPV FCRU / PCR / TPV 5 days 5 days 2 days 5 days 2-3 days 5 days 4 hrs 2 days 5 days 5 days FOR FAST SEXUAL HEALTH SCREENING TESTS SEE PAGE 48 Gonorrhoea (Culture) Gonorrhoea (PCR swab) Gonorrhoea (Thin Prep) Gonorrhoea (Urine) Chlamydia/Gonorrhoea (PCR Swab) Chlamydia/Gonorrhoea (Thin Prep) Chlamydia/Gonorrhoea (Urine) Chlamydia/Gonorrhoea (Throat) Chlamydia/Gonorrhoea (Rectal) Gardnerella vaginalis by PCR Hepatitis A Profile Hepatitis B sAg Hepatitis C Antigen (Early detection) Hepatitis C Antibodies Herpes Simplex I/II by PCR (Swab) Herpes Simplex I/II by PCR (Urine) HIV 1 & 2/p24Ag HIV/HBV/HCV (Early detection by PCR) HIV/HBV/HCV (Early detection by PCR) with Syphilis HPV (individual low & high risk DNA subtypes) HPV (DNA and reflexed mRNA) by PCR HPV (HR DNA types 16, 18 + others) Mycoplasma genitalium by PCR Swab for Culture (Any Site) Syphilis by PCR (chancre) Syphilis IgG/IgM Trichomonas vaginalis (Genital) Culture Trichomonas vaginalis by PCR Ureaplasma urealyticum by PCR Key: See page 15 for sample taking and special handling instructions. 45 STI detection STI’s can be caused by virus, fungus, parasite or bacteria. Anyone who is sexually active may be at risk of acquiring an STI. The risk is higher for those with increased numbers of sexual partners, or who have had sex with someone who has/had many partners, or have had unprotected sex. STI 46 INCUBATION PERIOD SAMPLE SITE Chlamydia CT Bacterial 1 – 3 weeks, up to 6 weeks Urine Cervix / Vagina Cervix / Vagina Gonorrhoea GC Bacterial 2 – 7 days, up to 1 month Urine Cervix / Vagina Cervix / Vagina Cervix / Vagina CT/GC Combined Bacterial 1 – 3 weeks, up to 6 weeks Urine Cervix / Vagina Cervix / Vagina Rectum Throat Mycoplasma genitalium Bacterial Symptoms develop at 1 – 3 weeks Urine GU Site Cervix / Vagina Ureaplasma urealyticum Bacterial Symptoms develop at 1 – 3 weeks Urine GU Site Cervix / Vagina Trichomonas vaginalis Parasitic 4 – 28 days, many patients are asymptomatic carriers Urine GU Site Cervix / Vagina Gardnerella vaginalis Bacterial Imbalance of normal flora Urine GU Site Cervix / Vagina Bacterial Vaginosis (BV) Bacterial Imbalance of normal flora Cervix / Vagina Herpes Simplex Viral I/II Viral 2 – 14 days, testing is most appropriate for patients with symptomatic lesion(s) PCR swab PCR swab Human Papillomavirus Viral HPV is the most common sexually transmitted infection – usually asymptomatic Cervical cells Cells / papilloma from site (throat /penile anal) Genital warts Viral Weeks / months after exposure GU Warts Syphilis/Herpes Bacterial / Viral Whenever active lesions are present Symptomatic Lesion Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. STI detection TEST TEST CODE SAMPLE TYPE TAT Chlamydia Chlamydia Chlamydia CPCR SPCR TPCR First catch Urine PCR Swab Thin Prep Vial 2 days 2 days 5 days Gonorrhoea by PCR Gonorrhoea by PCR Gonorrhoea by PCR Gonorrhoea by CULTURE CGON SGON TGON GONN First Catch Urine PCR Swab Thin Prep Vial Culture swab 2 days 2 days 5 days 2-3 days CT/GC CT/GC CT/GC CT/GC CT/GC CCG SCG TCG RSCG TSCG First Catch Urine PCR Swab Thin Prep Vial PCR Swab PCR Swab 2 days 2 days 5 days 2 days 2 days Mycoplasma genitalium by PCR Mycoplasma genitalium by PCR Mycoplasma genitalium by PCR MGEN MGEN MGEN First Catch Urine PCR Swab Thin Prep Vial 5 days 5 days 5 days Ureaplasma by PCR Ureaplasma by PCR Ureaplasma by PCR UGEN UGEN UGEN First Catch Urine PCR Swab Thin Prep Vial 5 days 5 days 5 days Trichomonas vaginalis by PCR Trichomonas vaginalis by PCR Trichomonas vaginalis by PCR TVPC TVPC TVPC First Catch Urine PCR Swab Thin Prep Vial 5 days 5 days 5 days Gardnerella vaginalis by PCR Gardnerella vaginalis by PCR Gardnerella vaginalis by PCR GVPC GVPC GVPC First Catch Urine PCR Swab Thin Prep Vial 5 days 5 days 5 days Bacterial Vaginosis (BV) Profile by both PCR and CULTURE STD8 Both Culture & PCR swab 3 days Herpes by PCR Herpes by PCR HERS HERD PCR Swab First Catch Urine 5 days 5 days HPV DNA/mRNA HPV Typed DNA HPV Typed DNA HPVT HP20 HP20 Thin Prep Vial PCR Swab Cells / Papilloma 5 days 5 days 5 days HPV Typed DNA HPV Typed DNA HPV Typed DNA HPVT HP20 HP20 Thin Prep Vial PCR Swab Cells / Papilloma 5 days 5 days 5 days Syphilis/Herpes Lesion Profile STD9 PCR Swab 7 days Key: See page 15 for sample taking and special handling instructions. 47 STI detection BLOOD INCUBATION PERIOD SAMPLE SITE Syphilis Bacterial 9 – 21 days, but up to 90 days Blood Herpes Simplex Virus I/II Viral IgG 4 – 6 weeks after exposure IgM 5 – 35 days after exposure, after which test IgG Blood Blood HIV Viral Usually 10 – 90 days, but up to 180 days Blood Blood Hep B Viral Usually 45 – 180 days, average of 60 – 90 days Blood Blood Hep C Ab Viral Usually 9 – 180 days, average of 45 – 65 days Blood Blood Hep C Ag Viral Usually 9 – 180 days, average of 45 – 65 days Blood Blood EARLY DETECTION PROFILES BY PCR INCUBATION PERIOD SAMPLE SITE 7 STIs by PCR One sample for 7 STI Tests Urine Cervix Vagina HIV / HBV / HCV Early Detection Screen by PCR Multiplex HIV/HCV at 10 days Blood FASTest Test Now Sexual Health Screening – ahead of expected time •Simultaneous RT-PCR detection of both CT and Dual Target Gonorrhoea •Sample Adequacy and Process Controls for every sample tested •The FASTEST Results: HIV/HBV/HCV/Syphilis and CT/NG in 4 hours* •Runs on: Cepheid GeneXpert® System IVD FCT FAST Chlamydia Urine FSCT FAST Chlamydia Swab FTCG FAST CT/NG Throat Swab FGN FAST Gonorrhoea Urine FSGN FAST Gonorrhoea Swab FRCGFAST CT/NG Rectal Swab FCG FAST CT/NG Urine FSCG FAST CT/NG Swab * From receipt of samples in the laboratory, First Catch Random Urine or PCR Swab. 48 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. STI detection TEST TEST CODE SAMPLE TYPE TAT Syphilis IgG / IgM SERJ B 4 hours Herpes IgG (past infection) Herpes IgM (current / recent) HERP HERM B B 2 days 2 days HIV I&II / p24 antigen HDUO B 4 hours Hep B surface antigen AUAG B 4 hours Hep C Antibodies HEPC B 4 hours Hep C Antigen (See table on page 63) Early detection at 10 days HCAG B 4 hours TEST TEST CODE SAMPLE TYPE TAT Chlamydia Gonorrhoea Mycoplasma genitalium Ureaplasma genitalium Trichomonas vaginalis Gardnerella vaginalis Herpes Simplex I/II PP12 2 days PP12 Thin Prep Vial or First Catch Urine or PCR Swab HIV 1&2 RNA Hepatitis B (HBV DNA) Hepatitis C (HCV RNA) STDX A 10mls or 2 x 4mls 3 days PP12 FAST SSC FAST USC 2 days 2 days FAST SSC Fast Screen SHORT Fast Screen with URINE Fast Screen with SWAB HIV 1&2/p24 Ag Syphilis IgM/IgG FAST Urine CT/NG HIV 1&2/p24 Ag Hep B sAg Hep C Abs Hep C Ag Syphilis IgG/IgM FAST Urine CT/NG HIV 1&2/p24 Ag Hep B sAg Hep C Abs Hep C Ag Syphilis IgG/IgM FAST Swab CT/NG TAT 4 HOURS* FSSC B FCRU TAT 4 HOURS* FUSC B FCRU Key: See page 15 for sample taking and special handling instructions. TAT 4 HOURS* FSWS B FCRU 49 Sexual health STD1 STD2 MALE PROFILE Urethral Micro Swab Chlamydia/Gonorrhoea (Urine) Syphilis IgG/IgM TAT 2 HIV 1 & 2 Abs/p24 Antigen Hep B surface Antigen Hep C Abs Hep C Ag (early detection) Syphilis IgG/IgM Chlamydia/Gonorrhoea (urine) Herpes Simplex I/II by PCR Urethral Swab for culture STD1 STD2 B STM FCRU STD4 FEMALE PROFILE TAT FEMALE PROFILE PLUS HIV 1 & 2 Abs/p24 Antigen Hep B surface Antigen Hep C Abs Hep C Ag (early detection) Syphilis IgG/IgM Chlamydia/Gonorrhoea Herpes Simplex I/II by PCR High Vaginal Swab for culture DAYS DAYS STD3 STD4 B STM PCR B STM PCR STD6 BLOODS ONLY BLOODS ONLY WITHOUT HIV Hepatitis B Surface Antigen Hep C Abs Hep C Ag (early detection) Syphilis IgG/IgM HIV 1&2/p24 Antigen Hepatitis B Surface Antigen Hep C Abs Hep C Ag (early detection) Syphilis IgG/IgM TAT TAT HOURS HOURS STD5 STD6 4 4 50 TAT 4 2 B 4 DAYS Syphilis IgG/IgM Chlamydia/Gonorrhoea (PCR Swab) High vaginal Swab (Culture swab) STD5 TAT DAYS B STM FCRU STD3 MALE PROFILE PLUS B Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Sexual health STD8 SYMPTOMATIC LESION SAMPLE USING PCR SWAB STD9 VAGINITIS / BV PROFILE Candida species Gardnerella vaginalis by PCR Trichomonas vaginalis by PCR Syphilis by PCR Herpes Simplex I/II by PCR (from single swab) TAT TAT DAYS DAYS STD8 STD9 3 PCR STM 7 PCR EARLY DETECTION SCREEN EARLY DETECTION SCREEN WITH SYPHILIS Positive findings will be reflexed for individual qualitative confirmatory testing using the Roche Cobas Ampliscreen Positive findings will be reflexed for individual qualitative confirmatory testing using the Roche Cobas Ampliscreen HIV1 and HIV2 (RNA) Hepatitis B Virus (HBV DNA) Hepatitis C Virus (HCV RNA) HIV1 and HIV2 (RNA) Hepatitis B Virus (HBV DNA) Hepatitis C Virus (HCV RNA) Syphilis IgG/IgM (HIV1/HIV2/HBV/HCV by PCR/NAT) (HIV1/HIV2/HBV/HCV by PCR) Samples must be received in the laboratory within 2 days of sample taking TAT 3 Samples must be received in the laboratory within 2 days of sample taking 3 DAYS DAYS STDX STXX A 10mls or 2 x 4mls B A 10mls or 2 x 4mls 7 STI PROFILE BY PCR (7 TESTS FROM 1 SAMPLE) STD QUAD Syphilis IgG/IgM HIV 1&2/p24 Antigen Chlamydia (Urine) Gonorrhoea (urine) TAT 2 B FCRU TAT Chlamydia trachomatis N. Gonorrhoea Mycoplasma genitalium Ureaplasma Trichomonas vaginalis Gardnerella vaginalis Herpes Simplex I/II All tests can be requested individually. TAT 2 DAYS DAYS STDQ PP12 FCRU OR PCR Swab OR TPV OR Semen Key: See page 15 for sample taking and special handling instructions. 51 52 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Immunology TEST CODE SAMPLE REQS TAT Acute Viral Hepatitis Screen Adenovirus Antibodies (CFT) IgG Adrenal Cortex Antibodies ANCA (Anti-Neutrophil Cytoplasmic Abs) Anti CCP Antibodies (RF) Anti Sla (Soluble Liver Antigen) Abs Anti-Ri Antibodies Antinuclear Antibodies (titre & pattern) Antistaphylolysin Titre (SGOT) Antistreptolysin Titre/ASOT Autoantibody Profile I Autoantibody Profile II Borrelia Antibodies (Lyme Disease) IgG, IgM Borrelia Antibodies (Lyme Disease) IgM Borrelia Confirmation (Immunoblot) Brucella Confirmation C1 Esterase Inhibitor C3 Complement C3/C4 Complement C4 Complement Calprotectin Calprotectin/Elastase Profile Cardiolipin Antibodies (IgG+IgM) CCP Antibodies (RF) Centromere Autoantibodies CH50 (Classical pathway) Chlamydia Species Specific Ab Screen Chronic Fatigue Syndrome Profile Coeliac/Gluten Sensitivity Profile Coeliac/Gluten Profile 2 Coeliac/Gluten Profile 3 Cotinine (Serum) Cotinine (Urine) Cryoglobulins DNA (Single Stranded) Antibodies DNA (Double Stranded) Antibodies Echinococcus (Hydatid) Antibodies Elastase (Faecal) Elastase / Calprotectin Profile Endomysial Antibodies (IgA) Extractable Nuclear Antibodies (nRNP, Sm, Ro ,La, Jo1, Scl70) Faecal Elastase FTA (IgG) AHSC ADAB ACTX ANCA CCP LSA RIAB ANAB ASTT ASLT AUTO ENDO BORR BORM BORC BRUC C1EI C3 COMP C4 CALP CEP ACAB CCP CAB CH50 CHAB VIP1 GSA GSA2 GSA3 COT COTT CRYO DNAS DNAA EFAT ELAS CEP AEAB B B B B B B B B B B B B B 9,14 B B 9,14 B 9 B B B B RF RF B B B B (Frozen) 4 B A or Chex + B 10 B A B A B B RU J 6 B B B 9,14 RF RF B 4 hrs 2 days 2 days 2 days 2 days 10 days 3 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 10 days 2-3 weeks 5 days 4 hrs 4 hrs 4 hrs 5 days 5 days 2 days 2 days 2 days 4 days 2 days 5 days 2 days 10 days 10 days 2 days 2 days 10 days 5 days 2 days 2 days 5 days 5 days 2 days ENA B 2 days ELAS FTA RF B 5 days 2 days Key: See page 15 for sample taking and special handling instructions. 53 Immunology 54 TEST CODE Ganglioside GM1, GD1B, GQ1B Abs Gastric Parietal Autoantibodies Giardia Antigen (Fresh Stool) Gliadin Antibodies (IgA + IgG) Glomerular Basement Membrane Abs Gluten Sensitivity Evaluation Gluten/Coeliac Profile 2 Gluten/Coeliac Profile 3 H. pylori Antibodies (IgG) H. pylori Antigen (QUICK Breath Test) H. pylori Antigen (Stool) Histamine Releasing Urticaria Test IgE (Total) Immunoglobulins (IgG, IgM, IgA) Influenza Screen Insulin Antibodies Interleukin 1 Beta Interleukin 2 Interleukin 4 Interleukin 6 Interleukin 8 Interleukin 10 Intrinsic Factor Antibodies Islet Cell Antibodies Legionella Antibodies Legionella Urine Antigen Liver Kidney Microsomal Antibodies Lupus Anticoagulant and Anticardiolipin Abs Lyme Disease (Borrelia Abs) IgG, IgM Lyme Disease (Borrelia Abs) IgM Meningococcal Abs Mitochondrial Antibodies Myeloperoxidase Antibodies Myositis Panel Neuronal Antibody (Hu, Ri, Yo, Cv2, Ma2) Nucleic Acid Antigen Antibodies Oligoclonal Bands Ovarian Autoantibodies Pemphigus/Pemphigoid Autoantibodies Phospholipid Antibodies Pneumococcal Antibody Screen Proteinase 3 Ab Reticulin Antibodies (IgA) GANG GASP GIAG AGAB AGBM GSA GSA2 GSA3 HBPA HBQT HBAG CURT IGE IMM INFL INAB ILB IL2 IL4 IL6 IL8 IL10 IFAB ICAB LEGO LEGA LKM LUPA BORR BORM MENI AMIT MPO MYOS NEUR DNA CSFO OVAB SKAB PLIP PNEU PR3 ARAB SAMPLE REQS TAT B B RF 9,14 B B B A B A B B J (Blowbag kit) 1 RF B B B B B B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B B B RU B B C 4,18 B 9,14 5 days 2 days 2 days 2 days 2 days 2 days 10 days 10 days 2 days 2 days 3 days 10-14 days 1 day 4 hrs 2 days 5 days 1-2 weeks 1-2 weeks 1-2 weeks 1-2 weeks 1-2 weeks 1-2 weeks 2 days 2 days 2 days 1 day 2 days 2 days 2 days 2 days 2-4 weeks 2 days 2 days 5 days 5 days 2 days 5 days 2 days 2 days 2 days 7 days 2 days 2 days B B B B B B B CSF+B B B B B B B Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Immunology TEST CODE Rheumatoid Factor (Latex Test) Rheumatology Profile 1 (Screen) Rheumatology Profile 2 (Connective tissue) Rheumatology Profile 3 (Rheumatoid/Basic) Rheumatology Profile 4 (Systemic Lupus) Rheumatology Profile 5 (Mono Arthritis) Rheumatology Profile 6 (Rheumatoid Plus) Rheumatology Profile 7 (Srogren’s syndrome) Rickettsial Species Antibodies Salivary Duct Antibodies Sjrogren’s Syndrome Skin (Pemphigus/Pemphigoid) Autoantibodies Smooth Muscle Antibodies Sperm Antibodies (Serum) Steroid Cell Antibody Striated/Skeletal Muscle Antibody Syphilis IgG/IgM TB Quantiferon®-TB Gold Testicular Autoantibodies Thyroid Abs (incl. Thyroglobulin + Thyroid Peroxidase Abs) Thyroid Peroxidase Antibodies/Anti TPO Tissue Transglutaminase IgA (Coeliac) Tissue Transglutaminase IgG Torch Screen Total Immunoglobulin E TSH-Receptor Antibodies Urticaria Test (Histamine Releasing) VDRL (RPR) RF RH RH2 RH3 RH4 RH5 RH6 RH7 RICK SAB RH7 SKAB ASMO ASAB SCA STRA SERJ TBQ TAB THAB TPEX TAA TAAG TORC IGE TSI CURT VDRL Key: See page 15 for sample taking and special handling instructions. SAMPLE REQS TAT B A B A A B B A B A B B A A B B B B B B B B B B B B B J/special tubes 1 B B B B B B B B B B 1 day 2 days 3 days 2 days 2 days 3 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 5 days 2 days 2 days 4 hrs 3 days 2 days 1 day 1 day 2 days 5 days 2 days 1 day 4 days 10-14 days 2 days 55 Immunology HLA DQ2/DQ8 TEST CODE Coeliac/Gluten Sensitivity Profile Coeliac Disease Profile 2 Coeliac Disease Profile 3 Coeliac Disease – HLA DQ2/DQ8 Genotype GSA GSA2 GSA3 Q2Q8 GLUTEN SENSITIVITY EVALUATION (COELIAC DISEASE ANTIBODY) Endomysial IgA Reticulin IgA Gliadin IgA + lgG Total IgA Tissue Transglutaminase (IgA) SAMPLE REQS TAT B A B A B A9 2 days 10 days 10 days 10 days COELIAC DISEASE PROFILE 2 TAT 2 Endomysial IgA Reticulin IgA Gliadin IgA + lgG Total IgA Tissue Transglutaminase (IgA) HLA DQ2/DQ8 DAYS DAYS GSA B TAT 10 GSA2 A B COELIAC DISEASE PROFILE 3 Tissue Transglutaminase (IgA) HLA DQ2/DQ8 Total IgA TAT 10 DAYS GSA3 A B Coeliac Disease (CD) is an immune-mediated disease of the intestines that is triggered by the ingestion of gluten in genetically susceptible individuals. Gluten is the major protein component of wheat, rye, and barley. Genetic predisposition does play a key role in CD, and it is well known that CD is strongly associated with specific HLA class II genes known as HLA-DQ2 and HLA-DQ8. Approximately 95% of CD patients express HLA-DQ2, and the remaining patients are usually HLA-DQ8 positive. The negative predictive value for both tests is higher than 99%. However, the HLA-DQ2 allele is common and is carried by approximately 30% of Caucasian individuals. Thus, HLA-DQ2 or HLA-DQ8 is necessary for disease development but is not sufficient for disease development; its estimated risk effect is only 36-53%. Note: History taking is important if a patient has been on a gluten-free diet for 6-12 months, approximately 80% will lose their antibody response. After 5 years this increases to >90%. 56 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Immunology CHLAMYDIA SPECIES SPECIFIC (MIF) ANTIBODY SCREEN AUTOANTIBODY PROFILE I AUTOANTIBODY PROFILE II Thyroid Peroxidase Antibodies Antinuclear Antibodies Mitochondrial Antibodies Smooth Muscle Antibodies Gastric Parietal Cell Antibodies Reticulin Antibodies LKM Thyroid Peroxidase Antibodies Islet Cell Antibodies Adrenal Antibodies Gastric Parietal Cell Antibodies Gonadal (Ovarian/ Testicular) abs TAT TAT TAT DAYS DAYS DAYS AUTO ENDO CHAB B B CHRONIC FATIGUE SYNDROME PROFILE FAECAL CALPROTECTIN ELASTASE PROFILE Faecal Calprotectin Faecal Elastase TAT 5 Human Herpes Virus 6 (lgG/IgM) Epstein-Barr Virus Antibody Profile Lymphocyte Subsets (CD4/CD8)* CRP Vitamin D (25 OH) DAYS TAT 5 DAYS CEP RF 2 2 2 B Chlamydia trachomatis (serovar A-K & L1-L3) Chlamydia pneumoniae Chiamydia psittaci VIP1 A OR CHEX + B 10 Key: See page 15 for sample taking and special handling instructions. 57 Immunology RHEUMATOLOGY PROFILE 5 Mono Arthritis RHEUMATOLOGY PROFILE 3 Rheumatoid Disease RHEUMATOLOGY PROFILE 1 FBC ESR Uric Acid RF Anti CCP Antibodies (RF) Antinuclear Autoantibodies C Reactive Protein HLA B27 FBC ESR Uric Acid RF Anti CCP Antibodies (RF) Antinuclear Autoantibodies C Reactive Protein FBC ESR Uric Acid RF Anti CCP Antibodies (RF) C Reactive Protein TAT TAT TAT DAYS DAYS DAYS A B RHEUMATOLOGY PROFILE 2 General screen for Connective Tissue Disorders A A B B RHEUMATOLOGY PROFILE 4 Rheumatoid Factor RF Anti CCP Antibodies (RF) C Reactive Protein TAT 2 DAYS RH6 B RHEUMATOLOGY PROFILE 7 Sjrogren’s Syndrome Anti RO (SS-A) Anti La (SS-B) Salivary duct antibodies (SAB) C Reactive Protein TAT TAT TAT DAYS DAYS DAYS 2 3 2 RH4 RH2 A A B B RHEUMATOLOGY PROFILE 6 Systematic Lupus Erythematosus FBC ESR Antinuclear Autoantibodies Anti-dsDNA Antibodies to Extractable Nuclear Antigens (ENA) Anti nRNP Anti Sm Anti Ro (SS-A) Anti La (SS-B) Anti Jo-1 Anti Scl 70 Anti CENP RF Anti CCP Antibodies Anti Cardiolipin Autoantibodies Complement 3,4 C Reactive Protein FBC ESR Uric Acid Antinuclear Autoantibodies Anti-dsDNA Antibodies to Extractable Nuclear Antigens (ENA) Anti nRNP Anti Sm Anti Ro (SS-A) Anti La (SS-B) Anti Jo-1 Anti Scl 70 Anti CENP RF Anti CCP Antibodies HLA B27 C Reactive Protein RH5 RH3 RH A B 3 2 2 A B B RH7 B Patients with Irritable Bowel Syndrome (IBS) may benefit by testing for Calprotectin, see page 53 for details. 58 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Tropical immunology TEST CODE Amoebic (E. histolytica) Antibodies Amoebic (E. histolytica) Antigen Bilharzia (Schistosome) Antibody Screen Bilharzia (Schistosome) Antigen Bilharzia (Urine) Borrelia Antibodies (Lyme Disease) IgG, IgM Borrelia Antibodies (Lyme Disease) IgM Cryptosporidium Antigen Detection Dengue Virus Serology DVT/Pre-travel Screen (see profile) Echinococcus (Hydatid) Antibodies Enteric Organism Rapid Detection Filaria (Lymphatic and Non-Lymphatic) Antibodies Filaria Antigen Giardia Antigen (Fresh Stool) Insect/Worm/Ova/Cysts Leishmania Antibodies Malarial Antibodies (Pl. falciparum) Post-Travel Screen 1 Post-Travel Screen 2 Pre-Travel Screen (DVT) Rickettsial Species Antibody Profile Schistosome Antigen Schistosome (Bilharzia) Antibodies Shigella Abs Toxoplasma Antibodies (IgG+IgM) Tropical Screen AFAT AMAG BILH SHAG USCH BORR BORM CRPA DENG DVT1 EFAT EORD FIFA FIAG GIAG FLEA LEIS MALA PTS PTS2 DVT1 RICK SHAG BILH SHIG TFAM TROP SAMPLE REQS TAT B RF B 14 B RU 14 B 9,14 B RF B 9,14 A A B 9 B 9,14 RF B 9,14 A A RF 9,14 Send Specimen 9,14 B B 9,14 A A B G 14 A A B B B G 14 A A B 9 B 14 B B 14 B B 9 B B 9,14 2 days 2 days 2 days 3 weeks 8 hrs 2 days 2 days 1 day 5 days 5 days 2 days 2 days 10 days 4 days 2 days 5 days 2 days 2 days 10 days 10 days 5 days 2 days 3 weeks 2 days 5 days 4 hrs 10 days A range of specialist tests is available. Please contact the Immunology Department for advice, requests and interpretation of results. DETAILS OF PATIENT’S TRAVEL HISTORY IS ALWAYS ESSENTIAL Key: See page 15 for sample taking and special handling instructions. 59 Tropical immunology TROPICAL SCREEN (from 6 weeks post-travel) Amoebic Antibodies Schistosomal Antibodies (Bilharzia) Echinococcus Antibodies (Hydatid) Leishmania Antibodies Malarial Antibodies (IFA) Toxoplasma Antibodies IgG Toxoplasma Antibodies IgM POST-TRAVEL SCREEN 1 (Prior to 6 weeks) POST-TRAVEL SCREEN 2 (Prior to 6 weeks) Haematology Profile Biochemistry Profile Filaria Antibodies Schistosome Antigen Malarial Parasites Hep A IgM Abs Hep B s Ag Hep C Abs Hep C Ag HIV Duo Haematology Profile Biochemistry Profile Filaria Antibodies Schistosome Antigen Malarial Parasites TAT DAYS DAYS TROP PTS A A B G14 ENTERIC ORGANISM RAPID DETECTION 10 10 DAYS B B 9,14 TAT TAT 10 PTS2 A A B B B G14 DVT/PRE-TRAVEL SCREEN Detection of Bacterial, Viral and Parasitic Infection by Multiplex Real-Time PCR Bacteria and Bacterial Toxins Salmonella, Shigella, Campylobacter, Costridiium difficile Toxin A/B, Enterotoxigenic E. Coli (ETEC) LT/ST, E. coli 0157, Shiga-like Toxin Producing E. coli (STEC) stx 1/stx 2, Vibrio cholera, Yersinia entericolitica FBC Factor II Prothrombin Gene Factor V Leiden Anticardiolipin Antibodies TAT 5 DAYS Viruses Adenovirus 40/41, Rotavirus A Norvirus G1/G11 DVT1 A A B 9 Parasites Gardia, Entamoeba histolytica Cryptosporidium This does NOT include stool for m/c/s – this needs to be requested as a separate test. Please provide two samples if this is required. TAT 2 DAYS EORD RF 60 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Virology IMMUNE STATUS TEST CODE Haemophilus Influenzae B Antibodies Hepatitis A Immunity (IgG) Hepatitis B Immunity (see page 63) Measles Antibodies (IgG) Immunity Measles Antibodies (IgM) Measles, Mumps, Rubella (MMR) Mumps Antibodies (IgG) Mumps Antibodies (IgM) Pertussis (Whooping Cough) Antibodies Pneumococcal Antibody Screen Polio Virus 1, 2, 3 Antibodies Rabies Antibody Rubella Antibody (IgG) Rubella Antibody (IgM) Rubella PCR Tetanus Screen Varicella zoster Antibodies (IgG) Varicella zoster Antibodies (IgM) HINF HAIM HBIM MEAS MEAM MMR MUMP MUMM PERS PNEU POLO RABI RUBE RUBM RUBP TETA VZOS VZOM SAMPLE REQS TAT B B B B B 9 B B B B B B 9 B B B A/Amniotic Fluid B B B 7 days 4 hrs 4 hrs 1 day 2 days 1 day 1 day 1 day 5 days 7 days 5 days 10 days 4 hrs 4 hrs 5 days 5 days 1 day 2 days Hepatitis B Immunity/Vaccination Anti HBs less than 10 mIU/ml Non-immune to Hepatitis B 10 – 50 mIU/ml borderline – Booster indicated 50 – 100 mIU/ml low level immunity – Booster suggested 100 and over Immune to Hepatitis B Key: See page 15 for sample taking and special handling instructions. 61 Virology HEPATITIS TESTING TEST CODE Hepatitis (Acute) Screen Hepatitis A (IgM) Hepatitis A Immunity (IgG) Hepatitis A Profile Hepatitis A, B & C Profile Hepatitis B Core Antibody – IgM Hepatitis B Core Antibody – Total Hepatitis B DNA (Viral load) Hepatitis B ‘e’ Antigen and Antibody Hepatitis B Immunity Hepatitis B (PCR) Genotype Hepatitis B Profile Hepatitis B Resistant Mutation Hepatitis B Surface Antigen Hepatitis C Quantification (Viral Load) Hepatitis C Abs Confirmation (RIBA) Hepatitis C Antigen (Early detection) Hepatitis C Antibodies Hepatitis C Genotype Hepatitis Delta Antibody Hepatitis Delta Antigen Hepatitis Delta RNA Hepatitis E IgG/IgM Hepatitis G (PCR) Early Detection Screen (10 days post exposure) AHSC HAVM HAIM HEPA ABC HBCM HBC DNAB HEPE HBIM BGEN HEPB HBRM AUAG QPCR RIBA HCAG HEPC CGEN HEPD HDAG DRNA HBE HEPG STDX HEPATITIS B PROFILE B B B B B B B A B B A B A or B B A B B B A B B A (Frozen plasma) B A (Frozen plasma) A 10mls or 2 x 4mls 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 5 days 4 hrs 4 hrs 7 days 4 hrs 7 days 4 hrs 5 days 5 days 4 hrs 4 hrs 5 days 5 days 5 days 5 days 5 days 2 weeks 3 days HEPATITIS A, B & C PROFILE Hepatitis A Profile Hepatitis B Profile Hepatitis C Abs Hepatitis C Ag LFT’s Hepatitis A IgM Abs Hepatitis B Surface Antigen Hepatitis C Abs Hepatitis C Ag TAT TAT TAT HOURS HOURS HOURS HEPB AHSC ABC 4 62 TAT ACUTE VIRAL HEPATITIS SCREEN Hep B Surface Antigen Hep B Surface Antibodies Hep B Core IgG/IgM B SAMPLE REQS 4 4 B B Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Virology HBV Assays HBV Genotyping (BGEN) HBc IgM (HBCM) Detects IgM antibodies specific to the hepatitis B core antigen. These antibodies are the first to appear in HBV infection and can persist for 3-9 months after recovery. ANTI-HBcore (HBC) Detection of antibodies to hepatitis B nucleocapsid or core antigen is the marker for the presence of past or recent infection by HBV. Testing of anti-HBc antibodies can be particularly useful in detecting a chronic infection. Screening for anti-HBc antibodies is useful for preventing transmission of HBV. Identifies the hepatitis B genotype (A to H) in a patient’s serum/plasma. This is critical for determining treatment and monitoring response. HBV Drug Resistence Detection (HBRM) Detects hepatitis B virus wild-type and drug-induced mutations associated with famciclovir and lamivudine drug resistance, including YMDD mutants. HCV Assays HCV Antibody (HEPC) Detects the presence of hepatitis B surface antigen, which indicates infection, within human serum. It is the first marker to appear and may be observed 2 or 3 weeks before clinical symptoms. HBsAg persisting over 6 months denotes chronic hepatitis. The test indicates exposure to virus but does not necessarily signify current infection. The HCV antibody test may therefore be used to screen patients for possible HCV infection to detect the presence of antibodies to the virus, indicating exposure to HCV. This test cannot tell if the viral infection is active, only that you were exposed to the virus in the past. HBs Ab (HBIM) HCV Antigen (HCAG) HBs Ag (AUAG) Detects antibodies to hepatitis B surface antigen in human serum. This determinant is present in up to 80% of the cases of acute Hepatitis B, being detectable between 1-3 months after appearance of HBs antigen, and helps to establish the immune or infective status of the patient. HB e Antigen (HEPE) Detects hepatitis B e antigen (HBe Ag) or antibody to hepatitis B e antigen (Anti-HBe) in serum. The presence of HBe Ag indicates an infective state of the serum and shows that the virus is replicating. Appearance of antibody to HBe Ag indicates a decreased viral replication and generally represents a good clinical prognosis. It can also demonstrate the effectiveness of treatment. HBV Viral Load (DNAB) This assay measures the concentration of hepatitis B viral DNA in patient serum. The test enables the viral load at the beginning of treatment to be established and, thereafter, monitored to indicate treatment success. HVC Antigen is detectable well before the occurrence of antibodies against HCV. When virus is present, but antibodies are not detectable, a negative antibody test does not rule out HCV infection. Active HCV infection, either acute or chronic is characterised by the presence of HCV Antigen. This is analogous to HepBsAg (AUAG) in active HBV Infection. HCV Viral Load (QPCR) Measures the concentration of hepatitis C viral RNA in patient serum. This state-of-the-art assay enables the viral load at the beginning of treatment to be established and, thereafter, monitored to indicate treatment success. HCV Genotype for Treatment (CGEN) Determines the HCV genotype in a patient’s serum. The result is presented as being of either Genotype [1, 5, 6], [4] or [2, 3]. This grouping reflects required treatment duration of the different genotypes. HCV RNA Anti HCV Abs HCV Ag WINDOW PERIOD 0 20 40 60 80 Key: See page 15 for sample taking and special handling instructions. HCV Ag is detectable in the majority of PCR +ve, and HCV Ab +ve patients, and is considered useful to confirm HCV in untreated patients at any time. HCV Ag will be undertaken for confirmatory testing when HCV Abs are detected. 100 days 63 Virology Hepatitis B Surface Antigen HEPATITIS B • Transmission: Sexual, parenteral, perinatal, direct contact between individuals. • Development of chronic form: Yes (5% of adult cases). • Prevention: Vaccination ++++; specific IgG. • Clinical Signs: Asymptomatic in 90% of cases. • Main Marker: HBS Ag, anti HBc IgM, total anti HBc Ab, Anti-HBs Ab, HBe Ag, Anti-HBe Ab, HBV DNA. • Cure: 95% of cases (adults). How to request for Hepatitis B Surface Antigen / A • Complications: Cirrhosis and hepatocellular carcinoma. Not detected Weakly Reactive or Total anti-HBc Ab Positive Incubation 4-7 weeks Proceed to Full Hep B Profile (undertaken byphase TDL as routine reflex Acute testing to identify 4-12 weeksactive information) Cure years Anti-HCV Ab Positive Not detectedHCV Ag HepB e Antigen HepB core Specific IgM HepB e Antigen HepB core Specific IgM HCV RNA contact clinical signs HCV RNA HBs Ag HCV Ag HepB Anti-HCV AbDNA Quantitative (reports viral load) Increase in transaminase levels 20 – 4656 IU/ml 4656 – 4.4 million IU/ml > 4.4 million IU/ml low viraemia moderate viraemia high viraemia Incubation Acute phase Convalescence Cure 4-12 weeks 2-12 weeks 2-16 months years Total anti-HBc Ab Anti-HBs Ab HBs Ag Anti-HBe Ab Anti-HBc IgM HBe Ag clinical signs contact immunity infectivity HBV DNA HBe Ag HBs Ag Anti-HBc IgM Total Anti-HBc Ab Anti-HBe Ab Anti-HBs Ab Increase in transaminase levels 64 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Virology Hepatitis C Antibodies HEPATITIS C • Transmission: Parenteral, nosocomial, sexual. • Complications: Cirrhosis and hepatocellular carcinoma. • Clinical Signs: Asymptomatic in 90% of cases. • Prevention: Hygiene, no vaccination. • Main Marker: Anti HCV Ab, HCV Ag, HCV RNA. • Development of chronic form: Yes (80% of adult cases). • Cure: 95% of cases (adults). How to request for Hepatitis C Antibodies Weakly Positive Reactive Not detected mial. Positive 0% of cases. The prognostic value of HCV genotyping lts). tocellular ronic form: cases). Chronic hepatitis; cirrhosis may, ultimately develop in up to 20% of HCV cases. Genotype 1b is more frequent (~70%) Genotype 1a, 2a and 2b are less frequent (~10%) HCV RNA Quantitative (reports viral load) < 4,000 IU/ml 4,000 – 40,000 IU/ml > 40,000 IU/ml considered low levels considered moderate levels considered high levels ation. Patient / treatment management Confirmation by HCV Ag (Quantitative) Positive Not detected (Proceed to Hep C RNA Viral Load) Total anti-HBc Ab (No further investigation) Incubation Acute phase Cure 4-7 weeks 4-12 weeks years Anti-HCV Ab HCV Ag HCV RNA contact clinical signs HCV RNA HBs Ag HCV Ag Anti-HCV Ab Increase in transaminase levels Key: See page 15 for sample taking and special handling instructions. Incubation Acute phase Convalescence Cure 65 Virology HIV TESTING TEST CODE SAMPLE REQS TAT HIV Screening: HIV1&2 Abs/p24 Ag HIV Confirmation of Positive Screens (Using 3 methodologies) HIV 1 Quantitation (viral load by PCR) HIV 2 Quantitation (viral load by PCR) Early Detection Screen (10 days post exposure) HTLV 1&2 Abs. (Human T Lymphotropic Virus Type I-II) HIV Drug Resistance Genotyping HDUO B 4 hrs HIVC B 1 day IDSQ HIV2 STDX HTLV HIVD A A A10mls or 2 x 4mls B A 5 days 5 days 3 days 8 hrs 7 days HIV 1&2 Abs, using saliva is available for insurance/underwriting organisations only. HIV DUO SCREEN EARLY DETECTION SCREEN (Simultaneous testing for HIV1/HIV2/HBV/HCV by PCR/NAT) Appropriate for screening from 4 weeks post-contact HIV 1 & 2 Antibody p24 Antigen Positive findings will be reflexed for individual qualitative confirmatory testing using the Roche Cobas Ampliscreen HIV1 and HIV2 (RNA) Hepatitis B Virus (HBV DNA) Hepatitis C Virus (HCV RNA) TAT 4 HOURS Samples must be received in the laboratory within 2 days of sample taking HDUO B 66 TAT 3 DAYS STDX A 10mls or 2 x 4mls Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Virology HIV (Human Immunodeficiency Virus) • Transmission: Sexual, infected blood, sharing needles/stick injury, pregnancy and birth. • Clinical Signs: Flu-like symptoms possible within a month or two after exposure to the virus – fever, headache, fatigue, and enlarged lymph nodes (time of high infectivity). Long asymptomatic period followed by enlarged glands before onset of AIDS. AIDS applies to the most advanced stages of HIV infection. • Cure: Currently, there is no cure for HIV or AIDS. However, certain therapies can help. Early initiation of treatment is the best course. • Complications: HIV is the virus that causes AIDS (acquired immunodeficiency syndrome). By destroying cells of your body’s immune system, HIV progressively destroys the body’s ability to fight infections and certain cancers. Most people infected with HIV will develop AIDS but this may take several years. It is estimated that aproximately 50% of people with HIV will develop AIDS within 10 years of becoming infected. • Prevention: Education, safe sex, no vaccine. • Main Diagnostic Markers: HIV 1&2 Abs/p24 antigen, HIV RNA. to request for HIV 1 & 2 Antibodies (Serum)/p.24 Antigen mmunodeficiency Virus) Not detected d blood, sharing ury, pregnancy and birth. ms possible within a fter exposure to the – e, fatigue, and enlarged ime of high infectivity). matic period followed by s before onset of AIDS. the most advanced nfection. If acute HIV infection is suspected on clinical grounds suggest repeat HIV Abs/p24 Ag test (HDUO) at 10-14 days Positive/Reactive Suggest confirmation using 3 methodologies is no cure for HIV or , certain therapies can ation of treatment is the that causes AIDS nodeficiency syndrome). lls of your body's immune ogressively destroys the o fight infections and . Most people infected velop AIDS but this may ars. It is estimated that 0% of people with HIV DS within 10 years of ted. sex, no vaccine. c Markers: 24 antigen, Proviral HIV sis, HIV RNA. HIVC (HIV Confirmation) OR Not detected Positive HIV RNA (Quantitative) Not detected Positive Refer for Patient Management Key: See page 15 for sample taking and special handling instructions. 67 Virology 68 TEST CODE Adenovirus Antibodies (CFT) IgG Aspergillus Precipitins Cytomegalovirus (IgG/IgM) Antibodies Cytomegalovirus Avidity Cytomegalovirus DNA (PCR) Cytomegalovirus (PCR) Cytomegalovirus IgM Enterovirus Screen Epstein-Barr Virus Antibodies IgG/IgM Herpes I/II Antibody Profile (IgG) Herpes Simplex I/II by PCR (Swab) Herpes Simplex I/II by PCR Herpes Simplex I/II IgM Human Herpes Virus – 6 (IgG/IgM) Ab Human Herpes Virus – 6 by PCR Human Herpes Virus – 8 (IgG) Measles Antibodies (IgG) Immunity Measles Antibodies (IgM) Mumps Antibodies (IgM) Mycoplasma pneumoniae IgM and IgG Neurological Viral Screen Parvovirus Antibodies (IgM) Parvovirus IgG Antibodies Parvovirus IgG/IgM Abs Pneumonia (Atypical) Screen Q Fever (C Burnetti) Antibodies Respiratory Synctial Virus Respiratory Viral Screen Rubella Antibody (IgG) Rubella Antibody (IgM) Torch Screen Toxoplasma Antibodies (IgG+IgM) Varicella zoster Antibodies (IgG) Varicella zoster Antibodies (IgM) Viral Antibody Screen ADAB ASPP CMV CMAV CMVP CMVU CMVM ENTO EBVA HERP HERS HERD HERM HSV6 HHV6 HHV8 MEAS MEAM MUMM MYCO NVIR PARV PARG PARP APS QFEV RSV RESP RUBE RUBM TORC TFAM VZOS VZOM VIRA SAMPLE REQS TAT B B B B A RU B B B B PCR FCRU / PCR/ TPV B B A B B B 9 B B B B B B B B B 9 B B B B B B 9 B B B B 2 days 5 days 4 hrs 10 days 5 days 5 days 4 hrs 2 days 2 days 2 days 5 days 5 days 2 days 2 days 5 days 10 days 1 day 2 days 1 day 2 days 2 days 2 days 2 days 2 days 2 days 3 days 2 days 2 days 4 hrs 4 hrs 2 days 4 hrs 1 day 2 days 2 days Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Virology VIRAL ANTIBODY SCREEN Influenza A CFT CMV Influenza B CFT HSV 1 Measles IgG HSV 2 Measles IgM Mumps IgG Mumps IgM Mycoplasma pneumonia Adenovirus CFT TAT Chlamydia CFT 2 Q fever CFT DAYS NEUROLOGICAL VIRAL SCREEN Toxoplasma Antibodies (IgG, IgM) Rubella Antibody (IgG, IgM) CMV Antibody (lgG, IgM) Herpes Antibody (HSV1/HSV2 IgG) Influenza A CFT Influenza B CFT Measles IgG Measles IgM Mumps IgG Mumps IgM CMV IgG HSV 1/2 IgG HSV 1/2 IgM VZV IgG TAT TAT DAYS DAYS NVIR TORC 2 2 VIRA B B TORCH SCREEN B B 2 Coxsackie virus A mix CFT Coxsackie virus B mix CFT ECHO virus N Mix CFT ECHO virus P Mix CFT Influenza A CFT Influenza B CFT Adenovirus CFT Parainfluenza mix CFT RSV CFT TAT 2 DAYS DAYS ENTO APS B RESPIRATORY VIRAL SCREEN ENTOVIRUS SCREEN ATYPICAL PNEUMONIA SCREEN Mycoplasma pneumonia Abs Chlamydia pneumoniae (MIF) Legionella pneumophila (IF) TAT B B TAT 2 DAYS RESP B VIRAL SCREENS BY PCR SITE OF PCR SWAB CODE SAMPLE REQS TAT Herpes Simplex I/II from symptomatic lesion Skin/Mucosal Swab HERS PCR 5 days VPSK PCR 5 days VPE PCR 4 days VPR PCR or as specified 5 days VPCR CSF 5 days Herpes Simplex virus; Varicella Zoster virus. (If chicken pox or shingles suspected, please indicate very clearly on form). Eye Swabs Herpes Simplex virus; Varicella Zoster virus; Adenovirus. Respiratory Samples e.g. throat swabs, nasopharyngeal aspirates, sputums Adenovirus; Parainfluenza 1, 2, 3; Influenza A, B; Respiratory Syncytial virus; Rhinovirus; Human Metapneumovirus. CSF Herpes Simplex virus; Varicella Zoster virus; Enterovirus; Any other required, please specify. Other swabs Note: If no site or test code is specified PCR swabs will be processed for Herpes Simplex I/II. Please state sample type on all samples to ensure correct assay procedure. Key: See page 15 for sample taking and special handling instructions. 69 Special assays by PCR / Nucleic acid amplification Pathogenic micro-organisms can be detected by molecular detection. For further information about any test please contact the Immunology department at TDL. Tests for viral pathogens, atypical organisms, bacteria, fungi and protozoa. TEST CODE Cytomegalovirus DNA (PCR) Enterovirus by PCR Epstein-Barr Virus (EBV-DNA) H1N1 (Swine Flu) Hepatitis B DNA (Viral load) Hepatitis C Quantification (Viral Load) HIV1/HIV2/HBV/HCV Early Detection Screen HIV 1 Quantitation (viral load by PCR) HPV (DNA and reflexed mRNA) by PCR HPV (individual low and high risk DNA subtypes) HPV (HR DNA type 16, 18 + others) Human Herpes Virus – 6 by PCR MRSA (Rapid PCR) one swab per site Mycobacterium tuberculosis – DNA Mycoplasma genitalium DNA by PCR Neisseria Gonorrhoea – DNA Pertussis by PCR Rubella Virus – RNA by PCR Sexual Health Screen Ureaplasma by PCR CMVP ENPC EBVQ H1N1 DNAB QPCR STDX IDSQ HPVT HP20 HPV HHV6 MRSA TBPC MGEN TGON/SGON PERP RUBP PP12 UGEN TAT A A/RF/PCR A 2x PCR A A A 10mls or 2 x 4mls A TPV PCR/TPV TPV A Blue Micro Swab A FCRU / PCR / TPV TPV/PCR Throat swab PCR A/Amniotic Fluid FCRU/PCR/TPV/Semen FCRU / PCR / TPV 5 days 5 days 7 days 1 day 5 days 5 days 3 days 5 days 5 days 5 days 2 days 5 days 4 hrs 5 days 5 days 5 days 5 days 5 days 2 days 5 days EARLY DETECTION SCREEN 7 STI PROFILE BY PCR (7 TESTS FROM 1 SAMPLE) Chlamydia trachomatis N. gonorrhoea Mycoplasma genitalium Ureaplasma Trichomonas vaginalis Gardnerella vaginalis Herpes Simplex I/II SAMPLE REQS (Simultaneous testing for HIV1/HIV2/HBV/HCV by PCR) All tests can be requested individually. Positive findings will be reflexed for individual qualitative confirmatory testing using the Roche Cobas Ampliscreen HIV1 and HIV2 (RNA) Hepatitis B Virus (HBV DNA) Hepatitis C Virus (HCV RNA) TAT 2 DAYS Samples must be received in the laboratory within 2 days of sample taking 70 3 DAYS STDX PP12 FCRU OR PCR Swab OR TPV OR Semen TAT A 10mls or 2 x 4mls Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Tumour markers/sites TEST CODE Alpha Feto Protein Beta HCG (Oncology) Breast/Ovarian Cancer – BRCA1 + BRCA2 full screening + CHANGE deletions/duplications Breast/Ovarian Cancer NGS Panel – full sequencing NEW across 39 genes + deletions/duplications CA 15-3 CA 19-9 CA 50 CA 125 Carcino Embryonic Antigen Cyfra 21-1 Early CDT-Lung HE4 + ROMA Neurone Specific Enolase NMP22 (Bladder tumour) Osteocalcin PCA3 (Molecular test for the detection of prostate cancer from urine) Prostate Profile (Total & Free PSA) Prostate Specific Antigen (Total)* S100 Malignant Melanoma Squamous Cell Carcinoma Testicular Tumour Profile * Results that fall between 2.00 and 10.00 ug/L will automatically reflex to a Free PSA with a calculated ratio. The ratio of Free to Total PSA may help discriminate between prostate cancer and benign prostatic hyperplasia. TUMOUR MARKERS/SITES BHCG: Testes Cyfra 21-1: Oesophagus, Lung, Bladder BRCA1/2: Breast HE4: Ovary CA 125: Ovary NMP22: Bladder CA 15-3: Breast NSE: Lung, Brain, Thyroid CA 19-9: Stomach, Colorectal, Gastrointestinal, Pancreas PCA3: Prostate CA 50: Bladder, Colon S100: Melanoma CDTL: Lung SCC: Oesophagus, Bronchus, Lung, Cervix AFP: Liver, Testes CEA: Stomach, Liver, Breast, Ovary, Gastrointestinal, Lung AFP HCGQ SAMPLE REQS TAT B B 4 hrs 4 hrs GENE A A 9,11 3 weeks GENE A A 9,11 6 weeks C153 C199 CA50 C125 CEA CY21 CDTL HE4 NSE NMP OST PCA3 PR2 PSPA S100 SCC TTP B B B B B B B B B J 1 B (Frozen) 4 J 1,6 B B B B B 4 hrs 4 hrs 5 days 4 hrs 4 hrs 4 days 7 days 1 day 5 days 4 days 4 days 7 days 4 hrs 4 hrs 4 days 4 days 4 hrs HE4 Earlier Detection of Ovarian Tumour HE4 / CA 125 / ROMA Calculated Algorithm for pre and post menopausal risk of malignant disease (see page 72) TAT 1 DAY HE4 B PROSTATE PROFILE Total and Free PSA PSA: Prostate Total PSA Free PSA Calculated Ratio TAT 4 HOURS PR2 B Key: See page 15 for sample taking and special handling instructions. 71 Tumour markers/sites HE4 CA 125, HE4 and ROMA (Risk of Ovarian Malignancy Algorithm) Ovarian Cancer is the fourth or fifth most common cause of cancer-related deaths among women worldwide and is responsible for 5% of all cancer deaths in women. Ovarian cancer is often detected at an advanced stage, which generally results in a poor prognosis and poor survival rate. Early detection is the key to improved survival among women with ovarian cancer. CA 125 is, to date, the best known test for ovarian cancer diagnosis, and is the serum marker most widely used to monitor therapeutic response and to detect disease or disease recurrence in patients treated for epithelial ovarian cancer. Its recognised limitations have prompted the development of biomarkers with better sensitivity for early stage diagnosis, with the ability to differentiate women with ovarian cancer from those with benign ovarian conditions. CA 125 has a high false positive rate among women with benign gynaecological conditions such as endometriosis. It is well documented that approximately 20% of ovarian cancers lack expression of CA 125, and levels are not increased in nearly 40-50% of early stage ovarian cancers. HE4 is a new marker for ovarian carcinoma, which is over-expressed in patients with ovarian cancers. When combined with CA 125, HE4 significantly raises the level of sensitivity for the detection of ovarian cancer. HE4 is consistently expressed in patients with ovarian cancer and demonstrates an increased sensitivity and specificity over that of CA 125 alone. A Risk of Ovarian Malignancy Algorithm (ROMA) classifies patients as being at low or high risk for malignant disease using both the CA 125 and HE4 results and a woman’s menopausal status. This risk is given as an adjunct to the two test results for CA 125 and HE4. ROMA calculates a risk of finding ovarian cancer during surgery. ROMA classifies patients as being at low or high risk for malignant disease. HE4 is CE marked as an aid in estimating the risk of epithelial ovarian cancer in premenopausal and postmenopausal women EXAMPLE OF LOW RISK CALCULATION HE4 CA 125 36 10 pmol/L U/mL (< 140) (0 – 35.0) Premenopausal ROMA3.5% Low Risk = High Risk = Less than 7.4% Greater than or equal to 7.4% Postmenopausal ROMA6.4% Low Risk = High Risk = Less than 25.3% Greater than or equal to 25.3% EXAMPLE OF HIGH RISK CALCULATION 72 HE4 CA 125 39 146 pmol/L U/mL (< 140) (0 – 35.0) Premenopausal ROMA 4.9% Low Risk = High Risk = Less than 7.4% Greater than or equal to 7.4% Postmenopausal ROMA 34.7% Low Risk = High Risk = Less than 25.3% Greater than or equal to 25.3% Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Tumour markers/sites Site Tumour SampleTurnaround markertype time Oesophagus CA 19-9 CEA SCC serum serum serum 4 hours 4 hours 4 days Site Tumour SampleTurnaround marker typetime Thyroid CEA Thyroglobulin Calcitonin serum 4 hours serum 1 day 1ml 1 day Frozen serum Site Tumour marker SampleTurnaround typetime Breast Breast Cancer EDTA NGS Panel CA 15-3 serum CEA serum Site Tumour marker SampleTurnaround typetime Liver AFP CEA Ferritin serum serum serum Tumour marker SampleTurnaround typetime Site Tumour SampleTurnaround markertype time Bronchial/ Lung NSE* SCC* CDTL CEA Cyfra 21-1 Site Tumour SampleTurnaround markertype time Bile duct CA 19-9 CEA Site Tumour SampleTurnaround markertype time Site Pancreas CA 19-9 CEA Gastro- CEA intestine CA 19-9 serum serum Site Tumour SampleTurnaround markertype time Site Tumour marker SampleTurnaround typetime Ovarian Cancer EDTA NGS Panel CA125 serum CA 15-3 serum HE4 serum AFP serum serum serum serum serum serum serum serum serum serum 5 days 4 days 7 days 4 hours 4 days 4 hours 4 hours 4 hours 4 hours 6 weeks 4 hours 4 hours 4 hours 4 hours 4 hours 4 hours 4 hours Site Tumour SampleTurnaround markertype time Ovary Bladder/ Chorion CEA serum 4 hours CA 50 serum 5 days NMP22urine 4 days Site Tumour marker SampleTurnaround typetime Site Tumour SampleTurnaround markertype time Colon CEA CA 19-9 CA 50 serum serum serum Cervix/ Uterus SCC CEA Site Tumour marker SampleTurnaround typetime Carcinoid 5-HIAA 24 hour 5 days urine/ acidified serum serum 4 days 4 hours Site Tumour SampleTurnaround markertype time Prostate Prostate serum 4 hours Profile (Total + Free PSA) PCA3 7 days Site Tumour SampleTurnaround markertype time Melanoma S-100 serum Testes AFP serum Beta HCG serum (quantitative) Site Tumour marker 6 weeks 4 hours 4 hours 1 day 4 hours 4 hours 4 hours 5 days 4 hours 4 hours SampleTurnaround typetime Osteocalcin serum (frozen) 4 days 4 days * NSE: Neurone Specific Enolase SCC: Squamous Cell Carcinoma PCA3: A MOLECULAR TEST SPECIFIC FOR PROSTATE CANCER The PCA3 assay detects the presence of PCA3 mRNA from a first catch urine sample following a digital rectal examination (DRE). A DRE is required to release prostatic cells into the urine. Samples must be collected using specific Gen-Probe PCA3 sample collection tubes. Once collected in the urine collection tubes samples are stable for 5 days. Please contact the laboratory on 020 7307 7373 for further details, or email [email protected]. Key: See page 15 for sample taking and special handling instructions. 73 74 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. TDL Genetics TDL Genetics is a consultant-led service which is able to provide extensive expertise in the testing, diagnosis and genetic counselling of inherited disorders. Genetic tests are performed on DNA for molecular genetic analysis and on whole chromosomes for cytogenetic analysis. Some tests are part of profiles that can be linked with assays from other TDL disciplines, such as biochemistry and haematology, to give more comprehensive results for the patient. Genetic tests are available for: • Prenatal diagnosis and rapid trisomy screening by Amnio-PCR • Carrier screening • Newborn chromosome analysis • Confirmation of symptomatic individuals and pre-symptomatic testing • Genetic variation that influences risk of disease • Identity studies (paternity, zygosity, tissue typing) • Fertility studies • Products of conception Genetic testing is sometimes complex and tests will vary in their ability to detect mutations or to detect all patients who have, or will develop, the disease. Some tests are diagnostic for a condition, others are indicative or are associated with an altered risk for a condition. Results can affect the lives of individuals and have implications for their family, for insurance and employment. Where testing will predict the inheritance of a disease in a healthy person, counselling and consent are mandatory. For these tests, please complete the Genetic Request form at the back of the guide (including informed consent). Our service provides result interpretation and risk assessment to patients and their family members. Genetic counselling can be arranged by TDL’s Consultant Clinical Geneticist. DNA peaks from normal fetus DNA peaks from To meet the increasing range and complexity of genetic testing we have Down Syndrome fetus developed an excellent collaboration with other specialist laboratories. Tests marked GENE are sent to these laboratories within our network and have a fixed price. Specimen Receipt at The Doctors Laboratory is 24 hours a day. Specifically, TDL Genetics results service is available Monday to Friday 8.30am – 5.30pm with the laboratory also open for processing of samples on Saturdays from 9.00am – 1.00pm. Test codes, sample requirement codes, turnaround times may be found on the following pages. All samples must be collected in the specified containers, as shown in the key at the back of this guide. Samples should be fresh and in good condition (e.g. not clotted if EDTA whole blood is required) otherwise testing may be adversely affected and another sample may be required. Small DNA samples are stored routinely for one year, larger DNA samples can be stored by special arrangement. Instructions for transportation, sample labelling, and the completion of request forms can be found on the inside cover of the TDL Genetics Request and Consent Forms pad. The locations of the Laboratory and Patient Reception are indicated on the map on the reverse of each request form. If you do not find the test you require in this directory or need more information and advice please telephone the laboratory on 020 7307 7409 and ask to speak to the Consultant Clinical Geneticist or the Director of TDL Genetics. Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 75 TDL Genetics Genetic Testing THE IMPORTANCE OF CLINICAL DETAILS Clinical details are very important when providing genetic analysis. The more clinical information that is available (e.g. details of ultrasound information, phenotypic features or family history) the better the service we can provide. Failure to provide this information for cytogenetic studies may result in an inaccurate analysis. CYTOGENETICS Cytogenetic analysis is performed according to the Professional Guidelines for the Association of Clinical Cytogeneticists and the recommendations provided are dependent on the clinical indications given for each case. Clinical details inform the investigation at all stages: • Prior to analysis, clinical details may indicate, for example, that specialist procedures such as chromosome breakage or leukaemic studies are required, which must be referred to a specialist centre. • During analysis they may indicate that extra cells should be screened to investigate the possibility of mosaicism, for example in a diagnosis of suspected Turner syndrome, or that particular chromosomes must be targeted for high-resolution study, for example chromosome 4 in suspected Wolf-Hirschhorn syndrome. • When the analysis has been completed they may help to provide an accurate interpretation of the findings and in some instances prompt further investigations, for example FISH or molecular genetic studies. When clinical details are not available a routine analysis will be performed and a conditional report issued. MOLECULAR GENETICS Clinical details can be extremely important for clinical interpretation of a molecular genetic test. For example, the clinical comments accompanying a cystic fibrosis screening report will vary depending on whether the patient is a potential gamete donor or a person exhibiting a cystic fibrosis phenotype. Similarly, the interpretative comment accompanying Factor II and V studies may vary depending on whether the investigation is prompted by a history of recurrent miscarriage or the need to determine a thrombotic risk. It may also be crucial, where a mutation has already been shown to be segregating in a family, to be provided with information concerning the mutation and a family pedigree to ensure the correct analysis is performed and reliable risk figures calculated. Notes for Cytogenetics As cytogenetic studies require living cells, please ensure that samples reach the laboratory quickly. If a delay before despatch is unavoidable, samples may be stored in a refrigerator (4°C) but they must not be frozen. Information concerning packaging, transportation, and labelling of samples is provided on the inside cover of our TDL Genetics Request Form Pad. On completion of analyses, fixed cell suspensions are stored for a minimum of three months and are available for additional follow-up studies (for example, FISH), if necessary. Requesting additional tests Any further tests not requested at the time of sample receipt must be requested within: 2 weeks for DNA testing 2 weeks for cell culture testing 3 months for FISH testing Samples can be stored for longer periods if specifically requested at the time of sample receipt. 76 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. TDL Genetics POSTNATAL DIAGNOSIS (BLOOD CULTURE) Reasons for analysis: Chromosome studies are requested where problems that may have a cytogenetic basis are suspected, e.g. babies with birth defects; children with developmental delay and physical handicaps, or adults with fertility problems. Additionally, prospective gamete donors are screened to detect carriers of balanced chromosome rearrangements. Sample requirements: Lithium heparin whole blood specimens are required – gently mixed to prevent clotting and must not be frozen, or exposed to temperatures greater than 38°C. Sample volumes may be reduced for children (2-4ml) and neonates (1-2ml). Turnaround time: The usual turnaround time is 2-3 weeks however the laboratory will endeavour to respond to urgent requests. Where a major trisomy is suspected, a rapid PCR screen may be performed to provide an urgent provisional result. Notes a) Rarely, blood samples fail to culture (<1%); b) The culture may yield chromosomes of insufficient quality. This will be indicated on the report and a repeat study suggested; c) The laboratory should be informed if the patient has recently received a blood transfusion. LEUKAEMIC STUDIES (BONE MARROW) Sample requirements: 5-10ml bone marrow in preservative free heparin and RPMI medium. This can be supplied by the laboratory. Clinical information: Please complete the Leukaemic Studies Request form at the back of the guide, including WBC, reason for referral, stages of disease/treatment and analysis required e.g. karyotype and/or FISH or PCR. PRENATAL DIAGNOSIS Reasons for analysis: Chromosome studies are requested where pregnancies are identified as being at risk of a cytogenetic abnormality e.g. advanced maternal age; positive maternal serum screening; fetal abnormalities found on ultrasound; or where a parent is a known carrier of a chromosome anomaly, or where a high risk trisonomy has been found by NIPT. Sample requirements: a) amniotic fluid – 10ml+ in a plain sterile, leak-proof container. Suitable containers can be provided by the laboratory. The specimen must not be frozen. b) chorionic villus – 5mg+ in sterile transport medium. Suitable containers containing medium can be provided by the laboratory. The specimen must not be frozen. c) fetal blood – 1-2ml LITHIUM HEPARIN whole blood, gently mixed to prevent clotting. The specimen must not be frozen. Turnaround time: This is dependent on the rate of cell growth, however, the usual turnaround time is approximately 2 weeks. Fetal blood results will usually be reported within 7 days. Notes a) Maternal contamination, and mosaicism may complicate the analysis and may lead to the suggestion that a second invasive test is performed. b) Rarely, cultures fail to grow (overall <1%) c) Very small chromosome abnormalities may not be detected (this is why the phrase ‘No trisomies or major chromosome abnormalites detected…’ is used in our reports). d) for TTTs or heavily blood stained amniocentesis samples, please provide a maternal EDTA blood sample for comparison studies. Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 77 TDL Genetics SOLID TISSUE Reasons for analysis: Fibroblast cultures may be used in addition to blood cultures, for example where tissue specific mosaicism is suspected, or where blood samples cannot be obtained. POC samples may be requested for early spontaneous miscarriages, stillbirths, or to confirm a prenatal diagnosis. Sample requirements: All specimens should be placed in a sterile container, preferably containing transport medium. This can be supplied by the laboratory. Sterile normal saline can be used if transport medium is not available. Samples must not be placed in formaldehyde or other preservative and must not be frozen. Turnaround time: This is dependant on the rate of cell growth, however, the usual turnaround time is approximately 4 weeks. Notes a) Material from miscarriages has a relatively high culture failure rate (around 20%) b) If no villus or fetal parts are identified in supposedly POC material and a normal female chromosome result is found, this may indicate that maternal tissue has been cultured (this will be noted on our report) c) Sensitive disposal of miscarriage material can be arranged if requested at the time of sample receipt. If no special request is made, the material will be disposed of by incineration. FLUORESCENCE IN SITU HYBRIDISATION (FISH) Where FISH studies for specific microdeletion syndromes are required this must be indicated on the request form. Note: FISH studies for a prenatal aneuploidy screen have now been superceded in our laboratory by multiplex-PCR technology. Subtelomeric screens are now performed by Array CGH as part of developmental delay investigations. Common microdeletion syndrome testing is now performed by BOBs analysis. KEY PERSONNEL 78 Consultant Clinical Geneticist Prof. Michael Patton 020 7307 7409 [email protected] Head of Cytogenetics Terry Ballard 020 7307 7319 [email protected] Senior Cytogeneticist Kath Masters 020 7307 7409 [email protected] Director of Genetic Services Dr Lisa Levett 020 7307 7409 [email protected] Head of Molecular Genetics Dr Stuart Liddle 020 7307 7409 [email protected] Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. TDL Genetics TEST CODE SAMPLE REQS TAT 1p36 Deletion Syndrome – karyotype + FISH KARY, FISH CVS/AF/H 9 12-17 days GENE A 9,11 8 weeks DGB, KARY CVS/AF/A H 9 5-15 days DGB CVS/AF/A 9 5 days GENE A 9 3 weeks GENE A 9 4 weeks GENE A 9,11 4 weeks GENE SAFP A AF 9 3 weeks 5-10 days GENE A 9 4 weeks GENE A A 9 6 weeks GENE A 4 weeks GENE A A 6 weeks APC AF 9 1-2 days APCC AF 9 2-15 days ACUL AF 9 10-15 days ABOB AF 9 3-6 days ABK AF 9 5-15 days GENE A 9,11 8 weeks PWAM A 9 5 days GENE A A 9 6 weeks GENE A 9 8 weeks APEG A 5 days CGH CVS/AF/A H 9 10 days GENE A 9,11 10 days GENE A 9,11 4 weeks 21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia) – 7 mutations + deletions/duplications 22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days) 22q11 & 10p14 deletion (Di George Syndrome) – BOBs only 5' Fluorouracil Toxicity (DPD deficiency) – common mutation (IVS14+1G>A) Achondroplasia (Postnatal) – 2 common mutations in FGFR3 (c.1138G>A + c.1138G>C). Alpers Syndrome – 3 common POLG mutations (p.A467T + p.W748S + p.G848S) Alpha 1 Antitrypsin Genotype – PI*M, PI*S, PI*Z Alpha Fetoprotein on Amniotic fluid Alpha Thalassaemia – multiplex PCR for common large deletions Alport Syndrome NGS Panel – full sequencing CHANGE COL4A3 + COL4A4 + COL4A5 Alstrom Syndrome – ALMS1 sequencing Amelogenesis/Osteogenesis Imperfecta NGS Panel NEW – full sequencing across 20 genes AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR Amniocentesis – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days) Amniocentesis culture (karyotype) only AmnioBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes Amniocentesis – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days) – see profiles Androgen Insensitivity – AR sequencing + deletions/duplications Angelman Syndrome (Primary Screen) – methylation PCR Angelman/Rett Syndromes NGS Panel – NEW full sequencing across 18 genes Apert Syndrome – 2 common mutations in FGFR2 (c.755G>G + c.758C>G) Apolipoprotein E genotype – E2, E3, E4 Array CGH (Comparative Genomic Hybridisation) Ashkenazi Jewish Carrier Screen CHANGE – see Pan-ethnic / Jewish Carrier Profile Ashkenazi Breast Cancer Screen – 3 common mutations 9 9 9,11 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 79 TDL Genetics TEST NEW Ataxia/Episodic Ataxia NGS Panel – full sequencing across 33 genes + whole mt.DNA Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions BCR/ABL (Chronic Myeloid Leukemia) – fusion gene PCR + Philadelphia chromosome (9:22 translocation) analysis BCR/ABL Quantitative – fusion gene sizes p190 + p210 – MUST arrive in the laboratory within 36 hours Becker Muscular Dystrophy – deletions/duplications Beckwith-Wiedemann Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19 Behcet’s Disease – HLA Tissue Typing B*51 Beta Thalassaemia – beta-globin sequencing CODE SAMPLE REQS TAT GENE A A 9 8 weeks GRP A H 9 15 days CBMA Contact lab 5 days GENE Contact lab 10 days DND 9 A 10 days GENE 9 A 4 weeks B51 A A 9 6 weeks GENE 10 days 9 BOBs rapid chromosome analysis – see profiles CHANGE NEW Breast/Ovarian Cancer – BRCA1 + BRCA2 full screening + deletions/duplications GENE Contact consultant clinical geneticist A A 9,11 3 weeks Breast/Ovarian Cancer NGS Panel – full sequencing across 39 genes + deletions/duplications GENE Contact consultant clinical geneticist A A 9,11 6 weeks Breast Cancer Ashkenazi Screen – 3 common mutations GENE CADASIL – NOTCH 3 mutation screening GENE NEW Calreticulin – CALR exon 9 mutation screen NEW NEW NEW NEW NEW Cardio-Facio-Cutaneous/Noonan/LEOPARD/ Costello Syndromes NGS Panel – full sequencing across 12 genes Cardiomyopathy NGS Panel – full sequencing across 100 genes Carrier Screen (Pan-ethnic or Jewish) – see profiles Cerebellar Hypoplasia NGS Panel – full sequencing across 7 genes Cerebral Cavernous Malformations Panel – full KRIT + CCM2 + PDCD10 sequencing + deletions/duplications Charcot Marie Tooth Type 1A – PMP22 duplications Charcot-Marie-Tooth Syndrome NGS Panel – full sequencing across 49 genes CHARGE Syndrome – CHD7 sequencing NEW Cholestasis NGS Panel – full sequencing across 7 genes Chromosome Analysis (Amniocentesis) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days) Chromosome Analysis (Amniocentesis) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days) – see profiles Chromosome Analysis (Amniocentesis) – culture only 80 4 weeks GENE A 9,11 A 9,11 A 9 GENE A A 9 8 weeks GENE A A 9,11 6 weeks GENE A 9,11 10 days GENE A A 9 6 weeks GENE A A 9 8 weeks GENE A 9 4 weeks 4 weeks 4 weeks GENE 9 A A 6 weeks GENE A A A 9 4 weeks GENE APCC AF 9 2-15 days ABK AF 9 5-15 days ACUL AF 9 10-15 days 9,11 Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. 6 weeks TDL Genetics TEST CODE SAMPLE REQS TAT Chromosome Analysis (Blood) Chromosome Analysis (Bone Marrow) – please send with complete Leukaemic Studies Request form at back of guide Chromosome Analysis (Chorionic Villus) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days) Chromosome Analysis (Chorionic Villus) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days) – see profiles Chromosome Analysis (Chorionic Villus) – culture only KARY H 5-15 days CBMA Contact lab 5-20 days CVPC CVS 1,9 2-15 days CBK CVS 9 5-15 days CVSC CVS 1,9 10-15 days Chromosome Analysis (Products of Conception) PROC Placental Sample 1,9 20-25 days PBK Placental Sample 1,9 5-25 days CHSL PROC Slide 9 Fetal tissue 1,9 Contact lab 4-5 weeks GENE H 1,9 4 weeks YDEL Q2Q8 A 9 A 9 10 days GENE A A 9,11 6 weeks CGH CVS/AF/A H 9 10 days GRP A H 9,11 15 days GENE A 9,11 8 weeks GENE A 9 3 weeks GENE A A 9 6 weeks GENE A A 9 6 weeks GENE A 9 8 weeks GENE A A 9 8 weeks GENE A A 9 4 weeks PBOB, KARY CVS/AF/A H 9 5-15 days Chromosome Analysis (Product of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days) Chromosome Analysis (Slide for opinion) Chromosome Analysis (Solid Tissue) Chromosome Breakage Studies (Postnatal) – induced chromosome breakage within culture Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY NEW NEW NEW NEW CHANGE Coeliac Disease – HLA DQ2/DQ8 genotyping Colon Cancer NGS Panel – full sequencing across 21 genes + deletions/duplications Comparative Genomic Hybridisation (Array CGH) Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) – 7 mutations + deletions/duplications Congenital Central Hypoventilation Syndrome – PHOX2B repeat analysis Congenital Disorders of Glycosylation (CDG) NGS Panel – full sequencing across 38 genes Connective Tissue Disease NGS Panel – full sequencing across 31 genes Connexin-26 Associated Deafness (+ Connexin-30 common deletion) Costello/Noonan/LEOPARD/Cardio-FacioCutaneous Syndromes NGS Panel – full sequencing across 12 genes Craniosynostosis – including Crouzon, Jackson-Weiss, Pfeiffer & Saethre-Chotzen Syndromes. Genes analysed tailored to clinical diagnosis Cri du Chat Syndrome – BOBs (5 days) + karyotype (15 days) 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 5 days 81 TDL Genetics TEST Cri du Chat Syndrome – BOBs only CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (3-5 days) + culture (10-15 days) – see profiles CVS PCR for common anueploidies (2 days) + culture (10-15 days) NEW CYP450 2D6 Genotyping NEW NEW NEW 82 SAMPLE REQS TAT PBOB CVS/AF/A 5 days CBOB CVS 9 5 days CBK CVS 9 5-15 days CVPC CVS 9 2-15 days TGEN PLYT A 9 A 9 A 9 A 9 GENE A 8 weeks GENE A A 9,11 8 weeks GENE A A 9,11 6 weeks GENE A 9 3 weeks CVS/AF/A H 9 5-15 days CYP450 Genotyping for drug metabolism GENE Cystic Fibrosis – 139 common mutations CFS Cystic Fibrosis Poly T (5T, 7T, 9T) Deafness – Connexin-26 sequencing + Connexin-30 common deletion Dementia/Movement Disorders NGS Panel NEW – full sequencing across 89 genes Diabetes/Obesity NGS Panel – NEW full sequencing across 56 genes Dihydropyrimidine Dehydrogenase deficiency (5-FU Toxicity) – common mutation (IVS14+1G>A) DiGeorge Syndrome (22q11 & 10p14 deletion) – BOBs (5 days) + karyotype (15 days) DiGeorge Syndrome (22q11 & 10p14) – BOBs only NEW CODE DGB, KARY DGB 9 10 days 4 weeks 5 days 5 days 9 CVS/AF/A 9 5 days 10 days DVT1 A 9,11 A 9,11 A 9 A 9 A A B 9 DNA Extraction & Storage – 3 years (longer upon request) XDNA DNA Identity Profile – 15 STR markers DNAF Duchenne Muscular Dystrophy – deletions/duplications DMD Duchenne Muscular Dystrophy – full DMD1 sequencing GENE DVT/Pre-travel Screen – see profiles Ehlers-Danlos Syndrome NGS Panel – full sequencing across 31 genes Epidermolysis Bullosa NGS Panel – full sequencing of KRT5 + KRT14 genes Epilepsy NGS Panel – full sequencing across 342 genes + deletions/duplications Eye Disorders NGS Panel – full sequencing across 138 genes 10 days 10 days 6 weeks 5 days GENE A A 9 6 weeks GENE A A 9 8 weeks GENE A A 9 6 weeks GENE GENE A A 9 A 9 6 weeks Fabry Disease, X-linked – GLA sequencing Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion GENE A A A 9 8 weeks Factor II Prothrombin – G20201A mutation FX2 FX5 A 9 A 9 5 days Factor V Leiden – G1691A mutation Factor VIII (F8) Severe Haemophilia A – common 1/22 exon inversion GENE A 9 3 weeks Familial Adenomatous Polyposis (FAP) – APC sequencing + deletions/duplications GENE Familial Cutaneous Malignant Melanoma – CDKN2A + CDK4 exon 2 sequencing GENE 6 weeks 5 days Contact consultant clinical geneticist A 9,11 8 weeks A 9,11 Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. 8 weeks TDL Genetics TEST Familial Hypocalciuric Hypercalcaemia (FHH) – CASR sequencing Familial Hypercholesterolaemia – comprehensive LDLR + APOB + PCSK9 + LDLRAP1 sequencing Familial Mediterranean Fever – MEFV hotspot sequencing Familial Medullary Thyroid Carcinoma – RET gene hotspot sequencing NEW Fever Syndromes NGS Panel – full sequencing across 21 genes Fragile X Syndrome screen – FMR1 repeat analysis PCR (3 weeks) + Southern Blot (8 weeks) if required Friedreich Ataxia – frataxin gene repeat analysis NEW NEW NEW NEW NEW CHANGE CHANGE CODE SAMPLE REQS TAT GENE A 9 8 weeks GENE A A 9 4 weeks GENE A 6 weeks 9 GENE A GENE A A GENE A A A 3-8 weeks GENE 6 weeks 8 weeks 9,11 6 weeks 9 9 Genetic Reproductive Profile (Male) – see profiles GRP Gilbert Syndrome – common UGT1A1 repeat variation Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – common mutations Haemochromatosis – HFE common mutations C282Y + H63D Haemophilia A (Severe) – Factor VIII (F8) common 1/22 exon inversion Haemophilia/Coagulation NGS Panel – F8 + F9 + GP1BA + vWF full sequencing Harmony™ Prenatal Test (Non-Invasive Prenatal Testing) – common aneuploidy screening from maternal blood Hearing Loss NGS Panel – full sequencing across 103 genes Hereditary Cancer NGS Panel – full sequencing across 112 genes + deletions/duplications Hereditary Hemorrhagic Telangiectasia – ACVRL1 + ENG full sequencing + deletions/duplications Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis Hereditary Neuropathy NGS Panel – full sequencing across 49 genes Hereditary Non-Polyposis Colon Cancer (Lynch Syndrome) NGS Panel – full sequencing of MLH1 + MSH2 + MSH6 + deletions/duplications Hereditary Pancreatitis – PRSS1 hotspot sequencing + deletions/duplications + SPINK1 N34S common mutation Hereditary Spastic Paraplegia NGS Panel – full sequencing across 24 genes + deletions/duplications HFE gene (Haemochromatosis) – common mutations C282Y + H63D HLA Tissue Typing A GENE A A H 9 A 9 GENE A 9 6 weeks HMD A 3 days GENE A 3 weeks GENE A A 9 6 weeks NIPT J/Special tubes 1 GENE A A 9 up to 10 days 6 weeks GENE A A 9,11 6 weeks GENE A A 9 8 weeks GENE A 9 4 weeks GENE A A 9 6 weeks GENE A A 9,11 8 weeks GENE A 9 8 weeks GENE A A 9 6 weeks HMD A 9 3 days HLA HLBA HLA Tissue Typing A+B+C (Class I) HABC HLA Tissue Typing A/B/C/DRB1/3/4/5/DQB1 (Class I & II) HLFC A A 9 A 9 A 9 10 days HLA Tissue Typing A+B 9 9 9 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 15 days 6 weeks 10 days 10 days 10 days 83 TDL Genetics TEST CODE SAMPLE REQS TAT HLA Tissue Typing A/B/DRB1/3/4/5 HLAF HLF HLA Tissue Typing B HLB HLA Tissue Typing B*27 only HLAB HLA Tissue Typing B*51 (Behcet’s Disease) B51 HLA Tissue Typing B*57:01 high resolution HL57 HLA Tissue Typing C HLC HLA Tissue Typing Coeliac Disease – DQ2/DQ8 Q2Q8 HLA Tissue Typing DRB1/3/4/5 DRB1 HLA Tissue Typing DRB1/3/4/5/DQB1 (Class II) HLDQ HLA Tissue Typing Narcolepsy – DRB1*15/DQB1*06 NARC A A 9 A 9 A 9 A 9 A 9 A 9 A 9 A 9 A 9 A 9 10 days HLA Tissue Typing A/B/DRB1/3/4/5/DQB1 Huntington Disease – HD gene repeat analysis PCR (3 weeks) + Southern Blot (8 weeks) if required Hyperparathyroidism – CASR sequencing Hypochondroplasia (Postnatal) – 2 common mutations in FGFR3 (c.1620C>A + c.1620C>G) Identity Profile (DNA) – 15 STR markers Incontinentia Pigmenti, X-linked – IKBKG/NEMO common mutation Intellectual Disability NGS Panel – full sequencing NEW across 392 genes + deletions/duplications Iron Overload Profile – see profiles JAK 2 – V617F common mutation NEW JAK 2 – exon 12 sequencing (rare mutations) CHANGE Jewish / Pan-ethnic carrier screening – see profiles Joubert Syndrome NGS Panel NEW – full sequencing across 18 genes Karyotype – see Chromosome Analysis Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion Kenny-Caffey (Sanjad-Sakati) Syndrome – common 12bp TBCE gene deletion Krabbe Disease – GALC sequencing + 502T/del common deletion Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days) Langer-Giedion Syndrome – BOBs only Lebers Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common mutations LEOPARD/Noonan/Cardio-Facio-Cutaneous/ Costello Syndromes NGS Panel – full sequencing across 12 genes Leukaemic Studies (Bone Marrow) – please send with complete Leukaemic Studies Request form at back of guide 84 GENE 9 10 days 10 days 3 days 10 days 10 days 10 days 10 days 10 days 10 days 10 days Contact consultant clinical geneticist A 9,11 3-8 weeks GENE A 9 8 weeks GENE 9 A 4 weeks DNAF A 10 days GENE A 4 weeks GENE A A 9,11 IOP 9,11 9 6 weeks GENE A A B A 9 A 9 A 9,11 GENE A A 9 6 weeks GENE A 9 6 weeks TBC A 9 10 days GENE A 9 8 weeks PBOB, KARY CVS/AF/A H 9 5-15 days PBOB CVS/AF/A 5 days GENE A 9 8 weeks GENE A A 9 6 weeks CBMA Contact lab 4 weeks JAK2 GENE 9 4 weeks 10 days 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. 3 days 10 days TDL Genetics NEW CHANGE NEW NEW NEW TEST CODE SAMPLE REQS Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing GENE Contact consultant clinical geneticist A 9,11 6 weeks Loeys-Dietz (Marfan-Like) Syndrome –TGFBR1 + TGFBR2 sequencing Lowe (Oculocerebrorenal) Syndrome – OCRL sequencing + large deletions Lung Disorders NGS Panel – full sequencing across 51 genes Lynch Syndrome (HNPCC) NGS Panel – full sequencing of MLH1 + MSH2 + MSH6 + deletions/duplications Lysosomal Disorders NGS Panel – full sequencing across 105 genes Male Genetic Reproductive Profile – see profiles Marfan Syndrome – FBN1 sequencing + deletions/duplications Marfan/Loeys-Dietz/TAAD Syndromes – full sequencing across 17 genes + deletions/duplications Maturity-Onset Diabetes of the Young (MODY)/ Neonatal NGS Panel – full sequencing across 29 genes Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing Microdeletion (common) Syndromes – BOBs only TAT GENE A 9 8 weeks GENE A 9 8 weeks GENE A A 9 6 weeks GENE A A 9,11 8 weeks GENE A A 9 6 weeks GRP A H 15 days GENE A 8 weeks GENE A A 9 6 weeks GENE A A 9 6 weeks GENE A 9 6 weeks PBOB CVS/AF/A 9 5 days CVS/AF/A H 9 5-15 days CVS/AF/A 9 5 days GENE A 9 6 weeks GENE A 9 4 weeks MTHF 9 9 Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days) Miller-Dieker Syndrome – BOBs only Mitochondrial Myopathy – full mitochondrial DNA sequencing + deletions/duplications Myeloproliferative Leukaemia (MPL) gene NEW – W515X mutation screen MTHFR – common C677T mutation PBOB, KARY PBOB MTHFR – common C677T + A1298C mutations Multiple Epiphyseal Dysplasia (Pseudoachondroplasia) – COMP sequencing Multiple Endocrine Neoplasia Type 1 – MEN1 sequencing Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing Muscular Dystrophy/Myopathy NGS Panel NEW – full sequencing across 163 genes + whole mt.DNA Myotonic Dystrophy Type 1 – DMPK repeat PCR GENE A A 9 3 weeks GENE A 9 8 weeks GENE A 9,11 8 weeks GENE A 9,11 8 weeks GENE A A 9,11 8 weeks GENE GENE Narcolepsy – HLA DRB1*15/DQB1*06 Neurofibromatosis Type 1 – NF1 + SPRED1 sequencing + CHANGE deletions/duplications – MUST arrive in the laboratory within 36 hours NARC A 9 A 9 A 9 4 weeks Myotonic Dystrophy Type 2 (PROMM) – ZNF9 repeat PCR GENE A A 9,11 8 weeks 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 5 days 4 weeks 10 days 85 TDL Genetics TEST Neurofibromatosis Type 2 (Bilateral Acoustic) – NF2 sequencing + deletions/duplications Neuronal Migration Disorders NGS Panel NEW – full sequencing across 63 genes Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only Noonan/LEOPARD/Cardio-Facio-Cutaneous/ Costello Syndromes NGS Panel – full sequencing across 12 genes Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis Osteogenesis/Amelogenesis Imperfecta NGS Panel NEW – full sequencing across 20 genes p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing CHANGE Pan-Ethnic Carrier Screen – see profiles Pancreatitis (Hereditary) – PRSS1 hotspot sequencing + deletions/duplications + SPINK1 N34S common mutation Paternity Testing (postnatal and prenatal) – sample required from each person being tested (3 people) Pelizaeus-Merzbacher Syndrome – PLP1 sequencing + deletions/duplications Periodic Fever Syndromes NGS Panel NEW – full sequencing across 21 genes Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications Phelan-McDermid Syndrome – karyotype + FISH NEW Pheochromocytoma/Paraganglioma NGS Panel – full sequencing across 9 genes POLG-Related Disorders – full POLG sequencing Prader-Willi Syndrome (Primary Screen) – methylation PCR Product of Conception BOBs only – rapid aneuploidy diagnosis for all chromosomes Product of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days) – see profiles Pseudoachondroplasia (Multiple Epiphyseal Dysplasia) – COMP hotspot sequencing PTEN-related disorders (including Bannayan-RileyRuvalcaba, Cowden & Proteus Syndromes) – sequencing + deletions/duplications QF-PCR rapid common aneuploidy screen Recurrent Miscarriage Profile (female) – see profiles 86 CODE SAMPLE REQS TAT GENE A 9,11 8 weeks GENE A A 9 8 weeks NIPT J/Special tubes 1 up to 10 days GENE CVS / AF 10 days GENE A A 9 6 weeks GENE A 9 4 weeks GENE A A 9,11 6 weeks GENE Contact consultant clinical geneticist A 9,11 6 weeks GENE A 9,11 10 days GENE A 9 8 weeks A/AF/CVS 9,11,12 5 days GENE A 9,11 8 weeks GENE A A 9 6 weeks GENE A 9,11 8 weeks KARY, FISH CVS/AF/H 9 12-17 days GENE A A 9,11 8 weeks GENE A 9 6 weeks PWAM A 9 5 days KBOB Placental Sample or Solid Tissue 1,9 5 days PBK Placental Sample 1,9 5-25 days GENE A 9 8 weeks GENE A 9,11 8 weeks APC AF/ A 9 1-2 days Contact lab RMP A A B C C C H 9,18 Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. 10-15 days TDL Genetics NEW TEST CODE Renal Cysts And Diabetes (RCAD) – HNF-1β sequencing + deletions/duplications GENE A 9,11 8 weeks Retinitis Pigmentosa NGS Panel – full sequencing across 88 genes GENE A A 9 6 weeks Retinoblastoma – RB1 sequencing + deletions/duplications GENE Rett Syndrome – MECP2 sequencing + deletions/duplications Rett/Angelman Syndromes NGS Panel NEW – full sequencing across 18 genes Rubenstein-Taybi Syndrome – cREBBP + EP300 + SRCAP sequencing Sanjad-Sakati (Kenny-Caffey) Syndrome – common 12bp TBCE gene deletion Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing Short Stature – SHOX mutation screening + deletions/duplications Silver-Russell Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19 Skeletal Dysplasia NGS Panel NEW – full sequencing across 161 genes Smith-Lemli-Opitz Syndrome – DHCR7 sequencing Smith-Magenis Syndrome – BOBs (5 days) + karyotype (15 days) Smith-Magenis Syndrome – BoBs only Sotos Syndrome (Cerebral Gigantism) – NSD1 sequencing + deletions/duplications Spastic Paraplegia NGS Panel – full sequencing NEW across 24 genes + deletions/duplications Spinal Bulbar Muscular Atrophy (Kennedy Disease) – AR repeat analysis Spinal Muscular Atrophy – SMN1 deletions/duplications Spinocerebellar Ataxia – multiplex SCA1+2+3+6+7+17 repeat expansions SRY (Sex-determining Region Y) Tay Sachs Screen – 5 common mutations. See also Pan-Ethnic/Jewish Carrier Profile Thrombotic Risk – see profiles Torsion Dystonia (DYT1) – TOR1A common mutation c.904-906delGAG Tuberous Sclerosis – TSC1 + TSC2 sequencing Uni Parental Disomy (UPD) – parents and child Very Long-Chain Acyl-CoA Dehydrogenase Deficiency – ACADVL sequencing SAMPLE REQS TAT Contact consultant clinical geneticist A 9,11 8 weeks GENE A 9 8 weeks GENE A A 9 6 weeks GENE A A 9 6 weeks TBC A 9 10 days GENE A 9 6 weeks GENE A 9 8 weeks GENE A 9 4 weeks GENE A A 9 6 weeks GENE PBOB, KARY PBOB A 9 8 weeks CVS/AF/A H 9 5-15 days CVS/AF/A 9 5 days GENE A 9 4 weeks GENE A A 9 6 weeks GENE A 9 6 weeks SMA 9 A 3 weeks GENE A 4 weeks SRY A 2 days GENE A 3 weeks 9 9 9 PROP A A B C C C18 5 days GENE A 9 6 weeks GENE Specify type A 9,11 6 weeks A 9,12 5 days GENE A 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 6 weeks 87 TDL Genetics TEST CODE SAMPLE REQS Von Hippel-Lindau Syndrome – VHL sequencing + deletions/duplications GENE Contact consultant clinical geneticist A 9 8 weeks Williams Syndrome – BOBs (5 days) + karyotype (15 days) Williams Syndrome – BOBs only 88 PBOB, KARY PBOB CVS/AF/A H 9 TAT 5-15 days CVS/AF/A 9 5 days A 9 4 weeks CVS/AF/A H 9 5-15 days CVS/AF/A 9 5 days GENE A 9 8 weeks YDEL A 9 5 days Wilson Disease – ATP7B sequencing Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days) Wolf-Hirschhorn Syndrome – BOBs only X-linked Hydrocephalus/MASA Syndrome – L1-CAM sequencing Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY GENE PBOB, KARY PBOB Zygosity testing – comparative DNA profile DNAC A (From each twin and both parents) 9 Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. 5 days TDL Genetics ARRAY CGH TESTING Chromosome abnormalities can be associated with developmental delay, autism spectrum disorder, learning difficulties, dysmorphic features and other congenital abnormalities. Array CGH can detect smaller genetic changes than is possible by conventional karyotyping, and can provide accurate information on the size and possible consequences of the gains (duplications) or losses (deletions) identified. Multiple studies have shown that Array CGH, when applied to appropriate patients, will detect up to three times more pathogenic chromosome imbalances than karyotyping due to its greater precision and sensitivity. Array CGH testing is now considered to be the front line test for patients presenting with developmental delay (motor or growth), autism spectrum disorder, moderate to severe learning difficulties, dysmorphic features, with or without congenital abnormalities. Consortiums in the USA and many EU countries have adopted Array CGH as the front line test in this patient cohort. Array CGH is now more frequently used for prenatal studies as an adjunct or replacement for conventional cytogenetic studies, particularly where structural fetal abnormalities are seen at ultrasound scan but also at a patient’s or doctor’s request. The technique may also be utilised as a follow up test to characterise anomalies detected by a previous study (e.g. an apparently balanced de novo rearrangement or marker chromosome). When to use Array CGH In postnatal cases, patients should present with one or more of the following: • Mental retardation • Autism/autism spectrum disorder • Developmental delay • Dysmorphic features • Congenital malformations In prenatal cases, patients may present with: • Abnormalities on ultrasound scan which may be associated with a chromosome imbalance. • Approximately 10-20% of results identify extra or missing DNA which may or may not be relevant to the clinical phenotype, and will require further family studies to assist with interpretation. What can Array CGH detect? Deletions and duplications with greater sensitivity than conventional karyotyping. What does Array CGH not detect? • Balanced chromosome rearrangements such as translocations or inversions. • Low frequency mosaicism (<30% abnormal cells), some types of polyploidy like triploidy, Uniparental disomy (UPD) and Fragile X syndrome, imprinting defects, genetic diseases caused by point mutations or multifactorial inheritance. Further information is provided by the UNIQUE website at www.rarechromo.org/html/home.asp TEST CODE SAMPLE REQS TAT Postnatal array CGH CGH A H 10 days 9 Blood from both parents may also be provided in case of follow up studies at no extra charge. Prenatal array CGH CGH Amniotic fluid or CVS 9 10 days EDTA and heparin blood from both parents should be provided at the time of prenatal sampling in case of follow up studies at no extra charge. Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 89 TDL Genetics PAN-ETHNIC CARRIER SCREENING FOR COMMON DISEASES The Recombine CarrierMapTM is the most comprehensive genetic carrier screen for people of all ethnic backgrounds. It examines 2000+ mutations across 250+ diseases, including Cystic Fibrosis, Sickle Cell Disease, Thalassemia, Spinal Muscular Atrophy and Fragile X Syndrome. CarrierMapTM can also be filtered to report only on diseases common to the Jewish population – such as Bloom Syndrome, Canavan Disease, Gaucher Syndrome, Niemann-Pick and Tay Sachs Disease. Indications for use • Pre-pregnancy screening for couples that wish to check if they are silent carriers for a disease that would have serious implications for the future health of any children. • For patients who are concerned about a family history of a particular disease, where the common mutation detection rate is very high, such as Sickle Cell or Tay Sachs Disease The report comes with an extensive synopsis of any diseases for which a mutation was found, including prognosis, treatment and mode of inheritance. It includes an estimated risk assessment (based on reported ethnicity & family history) and recommendations for further testing. A full list of diseases covered by this test is available from the laboratory. CarrierMap Jane Smith John Smith Practice Code: 675 Miller MD 374 Broadway New York, NY 10000 Physician: Dr. Frank Miller Report Date: 1/16/2014 Patient: Jane Smith Procedure ID: 204 Specimen: Saliva, #401 Partner: John Smith DOB: 01/29/1974 Gender: Male Ethnicity: European Procedure ID: 203 Specimen: Saliva, #400 Barcode: 987654321 Results summary as Specimen Collected: 1/11/2014 recommended by ACMG Specimen Received: 1/13/2014 Practice Guidelines Specimen Analyzed: 1/16/2014 DOB: 02/19/1973 Gender: Female Ethnicity: European Barcode: 123456789 Specimen Collected: 1/11/2014 Specimen Received: 1/13/2014 Specimen Analyzed: 1/16/2014 Couple reports to assist with results interpretation SUMMARY OF RESULTS Jane Smith CarrierMap TM Biotinidase Deficiency Ordering Practice HIGH REPRODUCTIVE RISK Disease Jane Smith John Smith Cystic Fibrosis High Impact Treatment Benefits Carrier (1 abnormal copy) Gene: CFTR c.1521_1523delCTT (p.508delF) Carrier (1 abnormal copy) Gene: CFTR c.G1558T (p.V520F) Biotinidase deficiency is a treatable condition caused by the deficiency of the vitamin biotin. In this disease, the BTD gene responsible for extracting and recycling vitamin H (biotin) is defective. Individuals with this condition exhibit signs and symptoms within the first few months of life. Children with the more severe form of thecondition often experience seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Status John Smith: Carrier (1 abnormal copy) p.Q456H (c.A1368C) Jane Smith: No mutations detected. Next Steps ~0.09% reproductive risk remaining. Inheritance: Autosomal Recessive To learn more visit: http://recombine.com/diseases/biotinidase-deficiency 25% reproductive risk. Genetic counseling is recommended. Information on disease impact & management X-Linked diseases are clearly marked Next steps & implications are clearly defined Prognosis Treatment Prognosis is generally favorable. Immediate treatment and lifelong management with biotin supplements can prevent many of the complications. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible with biotin therapy. Immediate treatment and lifelong management with biotin supplements typically reverses and prevents most symptoms of this condition. Other treatment for this condition include routine assessment of vision and hearing to ensure that a treated individual is not symptomatic. ~ <1% Reproduction Risk Remaining. Use this data to calculate residual reproductive risk for your patients based on their ethnicities ~ Risk Assessment Clinical Information Physical Impairment Cognitive Impairment All other mutations analyzed by Recombine were not detected, reducing but not eliminating your chance to be a carrier for the associated genetic diseases. A list of all the diseases and mutations you were screened for is included later in this report. Recombine does not screen for every possible genetic disease. For disease information, please visit www.recombine.com/our-test. To speak with a Genetic Counselor, call 855.OUR.GENES . Diseases Tested: F 213, M 191 High Impact Treatment Lessens Symptoms Mutations Tested: F 1668, M 1462 Genes Tested: F 201, M 180 Chip: V4 Shortened Lifespan Effective Treatment Panel: F CarrierMap, M CarrierMap Lab Technician: Bob Jones Example Calculation: Reviewed by: Susan Jones, PhD, HCLD Panel clearlyRecombine indicated for this genetic assay using the Illumina Infinium Custom HD Genotyping Assay. The test is intended for clinical preconception and/or prenatal screening *Methods and Limitations: developed purposes and ispartner not validated for detection of homozygous mutations. False positive or negative results may occur for reasons that include: genetic variants, assay limitations, sample mix-up, sample each contamination, and molecular and technical errors. Recombine tests for Spinal Muscular Atrophy via an Identity-by-State shared haplotype comparison algorithm. Detection is limited to haplotypes within our library of known carriers of the most common mutation (deletion of Exon 7). Copyright 2014 Recombine, LLC • • • 1/277 Residual risk for negative partner by ethnicity × Ethnicity Detection rate Pre-test carrier risk General 55.6% 1/123 1/2 Chance non-carrier partner could pass unknown mutation × 1/2 Chance carrier partner could pass known mutation 855.OUR.GENES | www.recombine.com | [email protected] = Post-test carrier risk 1/277 1/1108 Residual Reproductive Risk Version: 4.0 Limitations This test only examines very specific common diseases and mutations (a full list is available from the laboratory, along with estimated ethnic detection rates). A normal result does not rule out the possibility that the patient carries a rare mutation not detectible by this particular assay. For this reason, this test is also not appropriate to use as a direct prenatal screen (both parents must be confirmed carriers for a particular disease before we can offer prenatal diagnosis). 90 TEST CODE Pan-Ethnic Carrier Screen Jewish Panel Carrier Screen SAMPLE REQS TAT GENE 9,11 A 10 days GENE A 9,11 10 days Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. TDL Genetics NON-INVASIVE PRENATAL TESTING (NIPT) Non-invasive prenatal testing (NIPT analyses cell-free DNA circulating in the pregnant mother’s blood. It is a new option in prenatal screening for Down syndrome (trisomy 21) and other common chromosomal conditions (trisomies 18 and 13), X and Y chromosome conditions. This test can be requested for any singleton pregnancy, including in vitro fertilization (IVF) pregnancies with egg donors. It can now also be requested for ALL twin pregnancies (without X or Y) conceived naturally or by IVF using the patient’s own egg or a donor egg. About the Ariosa HarmonyTM Prenatal Test DNA from the fetus circulates in the mother’s blood. Cell-free DNA (cfDNA) results from the natural breakdown of fetal cells (presumed to be mostly placental) and clears from the maternal system within hours of giving birth. During a pregnancy, cfDNA can be tested to give the most accurate screening approach in estimating the risk of a fetus having a common chromosome condition sometimes called a trisomy. This occurs when there are three copies of a particular chromosome instead of the expected two. The test looks to detect the following trisomies: • Trisomy 21 is the most common trisomy at the time of birth. Also called Down syndrome, it is associated with moderate to severe intellectual disabilities and may also lead to digestive disease, congenital heart defects and other malformations. • Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other birth defects. Most affected individuals die before or soon after birth, and very few survive beyond the first year of life. • Sex chromosome conditions. The sex chromosomes (X and Y) determine whether we are male or female. X and Y chromosome conditions occur when there is a missing, extra, or incomplete copy of one of the sex chromosomes. The Harmony with X, Y test can assess risk for XXX, XYY, XXYY, XXY (Klinefelter syndrome), and a missing X chromosome in a girl (Turner syndrome). There is significant variability in the severity of these conditions, but most individuals have mild, if any, physical or behavioural features. If the mother is interested in having this optional testing, she should talk with her healthcare provider to determine if it is right for her. This option is not available for twin pregnancies. Risk The testing is non-invasive: it involves taking a blood sample from the mother. The pregnancy is not put at risk of miscarriage, or from other adverse outcomes that are associated with invasive testing procedures such as amniocentesis. Accuracy Clinical studies have shown that the Ariosa HarmonyTM Prenatal Test has exceptional accuracy for assessing fetal trisomy risk. A ‘high risk’ result is indicative of a high risk for a trisomy. The test identifies in singleton pregnancies more than 99% of fetuses with trisomy 21, 98% of fetuses with trisomy 18, and 80% of fetuses with trisomy 13, and 96% of fetuses with Turner Syndrome. X and Y analysis provides >99% accuracy for fetal sex. Accuracy for detecting other sex chromosome anomalies varies by condition. After the test, the number of women required to have a CVS or an amniocentesis is less than 1%. It is important to note that if the test results show there is a high risk that the fetus has trisomy 21, 18, 13 or sex chromosome conditions, it does not mean that the fetus definitely has one of these conditions, although it is highly likely. For this reason, in the event of a ‘high risk’ (or positive) result, follow-up testing by an invasive procedure is recommended. In the same way if the test results show that there is a ‘low risk’ that the fetus has trisomy 21, 18, 13 or sex chromosome conditions, it is unlikely that the fetus has one of these conditions. However, there is a very small risk that not all trisomy fetuses will be detected. All results should be interpreted by a clinician in the context of clinical and familial data. Patients should continue with their usual scan appointments following testing. Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 91 TDL Genetics Who can have the test? Who carries out the analysis of the test? The Ariosa Harmony Prenatal Test can be ordered by healthcare professionals for women with pregnancies of at least 10 weeks’ gestational age. The HarmonyTM Prenatal Test can now be ordered for all IVF singleton pregnancies, including those with egg donors. Samples from pregnant women with twins naturally conceived, or those conceived using the patient’s own egg, are also accepted. This test does not assess risk for mosaicism, partial trisomies or translocations. Her sample and completed request form need to be sent to TDL Genetics, after which they will be referred to Ariosa Diagnostics Inc, USA. Ariosa performs the HarmonyTM Prenatal Test on the DNA extracted from her blood sample. Repeat samples Transfer of the mother’s information outside the European Union TM Will the mother need to have any other tests? The Ariosa HarmonyTM Prenatal Test does not provide information on other rare chromosomal abnormalities. The results will be ready in approximately two weeks, If the ultrasound scan shows a high nuchal translucency or other major physical defects such at which time most women can have their 12-week as brain abnormalities, heart abnormalities, the risk scan for a detailed examination of the fetal anatomy, including measurement of nuchal translucency, nasal for some rare chromosomal defects may be high. bone and other important factors. In this visit, patients In such cases, the mother may choose to have a CVS or an amniocentesis. can discuss the DNA and ultrasound results with their obstetricians. The non-invasive prenatal test does not provide information on other physical defects such as spina On the basis of the NIPT result and the ultrasound bifida, or information on fetal growth. It is therefore findings, a patient can decide whether or not she advisable that the mother has all the usual ultrasound wants to have an invasive procedure (for example, scans during her pregnancy. CVS or amniocentesis). There needs to be enough fetal DNA in the maternal blood to be able to provide a result. If there is insufficient fetal DNA in the sample (occurring in 3% of cases), another blood sample from the mother may be required. This will be processed in the laboratory at no extra charge. What is the process? For the purposes of carrying out the Ariosa HarmonyTM Prenatal Test, the mother’s personal information will be transferred outside of the European Union, to the USA. Please be aware that the laws applicable to her personal data in the USA are different from those operating in the UK, where TDL Genetics is established. Once the mother has taken an independent personal decision that she wants to have the non-invasive prenatal test performed, she will be asked to sign a consent form and her blood sample can be taken from a vein in her arm. 92 TEST CODE SAMPLE REQS TAT Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood NIPT Two 10ml tubes of maternal blood – special tubes provided by the laboratory up to 10 days Always provide Clinical Details and Family History with requests for Genetic Tests. Turnaround times are quoted as working days. TDL Genetics MALE GENETIC REPRODUCTIVE PROFILE PAN-ETHNIC CARRIER SCREEN Chromosome Analysis Y-Chromosome Microdeletions Cystic Fibrosis Carrier Screen (139 common mutations) PolyT (5T,7T,9T) if clinically indicated 2000+ Common Mutations across 250+ Diseases* includes 20+ X-linked Diseases and 60+ Jewish Panel Diseases TAT TAT 15 10 DAYS DAYS GENE GRP THROMBOTIC RISK PROFILE FBC Coagulation Profile Antithrombin III Factor V Leiden gene Factor II Prothrombin gene MTHFR gene Fibrinogen Lupus Anticoagulant Protein C Free Protein S Ag Anticardiolipin Abs 10-15 JEWISH CARRIER SCREEN DAYS 60+ Jewish Panel Diseases* RMP uses the same technology as the Pan-Ethnic Carrier Screen, but filters results to only report on mutations commonly seen in the Jewish Population TAT 10 DAYS TAT 5 PROP A A B C C C H 9,18 PRENATAL DIAGNOSIS (BOBS + CULTURE) Rapid Aneuploidy Diagnosis for All Chromosomes + Common Microdeletion Syndromes by BOBs Analysis TAT 3-5 GENE DAYS DAYS Chromosome Analysis (Karyotype) A 9,11 * Disease list available from the Laboratory A A B C C C 18 PRE-TRAVEL (DVT) SCREEN FBC Anticardiolipin Antibodies Factor II Prothrombin Mutation (G20210A) Factor V Leiden Mutation (G1691A) TAT 15 DAYS ABK or CBK AF / CVS 9 IRON OVERLOAD PROFILE PRODUCTS OF CONCEPTION (BOBS + CULTURE) Iron Total Iron Binding Capacity Ferritin Haemochromatosis C282Y, H63D Rapid Aneuploidy Diagnosis for all Chromosomes TAT by BOBs Analysis 3-5 DAYS TAT TAT DAYS DAYS 5 3 Chromosome Analysis (Karyotype) IOP DVT1 A A B 9 FBC Coagulation Profile Antithrombin III Factor V Leiden gene Factor II Prothrombin gene MTHFR gene Fibrinogen Lupus Anticoagulant Protein C Protein S Anticardiolipin Abs Chromosome Analysis Please request Partner’s Chromosome Analysis using a separate request form. TAT A 9,11 A H 9 RECURRENT MISCARRIAGE PROFILE (FEMALE) A A B 9 TAT 25 DAYS PBK Placental sample1,9 Always provide Clinical Details and Family History with requests for Genetic Tests. Key: See page 15 for sample taking and special handling instructions. 93 94 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. In-vivo tests These tests, ideally, must be carried out by appointment. Please telephone 020 7307 7383 for details, information for patient preparation, and appointment times. Sample taking fees for Extended tests are charged at per visit. TEST CODE ECG Glucose Tolerance (2 hrs) Glucose Tolerance + Insulin Glucose Tolerance Test Glucose Tolerance Test (Short) Glucose Tolerance Test (Extended) H. pylori Antigen (QUICK Breath Test) Lactose Tolerance Test Renin Synacthen Stimulation Test ECG GTTS GTTI GTT GTT3 GTTE HBQT LTT RENI SYNA SAMPLE REQS TAT X G G 2x RU X G G G G G 5x RU(X) G G G 3x RU(X) G G G G G G 6x RU(X) J (Blowbag kit) 1 J 1 A (Frozen plasma) 36 X 2 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 2 days 8 hrs 5 days 4 hrs ANTIBIOTIC ASSAYS TEST CODE Amikacin Level (State dose) Gentamicin Assay Metronidazole Level Teicoplanin Assay Tobramycin Assay (Provide Clinical Details) Vancomycin Hydrochloride AMIK GENT METR TEIC TOBR VANC SAMPLE REQS TAT B B 4 B 4 B B B 4 hrs 4 hrs 7 days 5 days 3 days 4 hrs 4 Therapeutic drug assays There are three different collection times for Therapeutic Drug Monitoring: TROUGH LEVEL Blood should be collected just before the next dose. Trough Levels check that the appropriate drug concentration is being maintained. PEAK LEVELS Sample collection time is dependent on specific drug type and method of administration. Peak levels check that the drug level is not in the toxic range. SUSPECTED TOXICITY Blood can be collected any time. All collections should have the following noted on the request form: • Dosage schedule including the amount and frequency and time of the last dose • Time of specimen collection • Clinical status of patient (e.g. routine, suspected toxicity) • Name(s) of other drugs being taken by the patient Key: See page 15 for sample taking and special handling instructions. 95 Therapeutic drug assays THERAPEUTIC DRUG ASSAYS 96 TEST CODE Amitriptyline Anafranil (Clomipramine) Carbamazepine (Tegretol) Clobazam Clomipramine (Anafranil) Clonazepam Diazepam (Valium) Digoxin Epanutin (Phenytoin) Erythropoietin Ethosuximide FK506 (Tacrolimus/Prograf) Flecainide (Tambocor) Fluoxetine (Prozac) Gabapentin Imipramine Lamotrigine Levetiracetam (Keppra) Lithium (take 12 hrs after dose) Lorazepam Methotrexate Mysoline (Primidone) Olanzapine Paracetamol Phenobarbitone Phenytoin (Epanutin) Primidone (Mysoline) Propanalol Risperidone Sinequan (Doxepin) Sirolimus Streptomycin Levels Sulpiride Tacrolimus/Prograf (FK506) Tegretol (Carbamazepine) Temazepam Theophylline Topiramate (Topamax) Trimipramine Valium (Diazepam) Valproic Acid (Epilim) Vigabatrin (Sabril) AMTR CHLO CARB CLOB CHLO CLON DIAZ DIGO PHEN ERY ETHO FK5 FLEC PROZ GABA IMIP LAMO LEVE LITH LORA METX PRIM OLAN PARA PHB PHEN PRIM PRO RISP DOXE SIRO STRM SULP FK5 CARB TEMA THEO TOPI TRIM DIAZ VALP VIGA SAMPLE REQS A A B A A A A B B B A A 4 A A 4 B 4 A 4 B 4 B 4 B A 4 B B 4 A 4 B B B B 4 B 4 A 4 A A F B 4 A 4 B B 4 B B 4 A A B A 4 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. TAT 5 days 7 days 4 hrs 5 days 7 days 7 days 7 days 4 hrs 4 hrs 4 days 7 days 1-2 days 5 days 5 days 5 days 4 days 5 days 3 days 4 hrs 10 days 2 days 3 days 5 days 4 hrs 4 hrs 4 hrs 3 days 7 days 7 days 10 days 3 days 5 days 4 days 1-2 days 4 hrs 4 days 4 hrs 4 days 5 days 7 days 4 hrs 10 days Vitamins, Nutrition and Lifestyle Life Length/Testing for Telomeres Measuring critically short telomeres and comparing biological age vs chronological age can encourage patients to take healthier decisions that can improve their day to day lives as well as their life-span allowing them to modify habits that accelerate aging and take nutritional/neutraceutical supplements when appropriate under clinical supervision. TELOMERE ANALYSIS TECHNOLOGY (LIFE LENGTH) www.lifelength.com 3 x Lith Heparin Completion of Online anonymous questionnaire required Sample Preparation for The Spanish National Cancer Research Centre, Madrid TAT 4 Contact the laboratory for details WEEKS TSPA H H H VITAMIN B PROFILE Vitamin B1 Vitamin B2 Vitamin B3 Vitamin B6 Vitamin B9 (red cell) Vitamin B12 (Active) MINERAL SCREEN VITAMIN PROFILE 1 TAT 5 DAYS Vitamin A Beta Carotene Vitamin B1 Vitamin B2 Vitamin B6 Vitamin C Vitamin E TAT 5 DAYS VITS VBP A B B A A B VITAMIN PROFILE 2 TAT FBC/ESR 5 Biochemistry Profile DAYS Omega 3/Omega 6 Total Antioxidant Status Ferritin C-Reactive Protein HDL/LDL Mineral Screen Vitamin B9 (Red Cell Folate) Vitamin B12 (Active) Vitamin A Beta Carotene Vitamin B1 Vitamin B2 Vitamin B3 Vitamin B6 Vitamin B9 (Red Cell Folate) Vitamin B12 (Active) Vitamin C TAT Vitamin D (25-OH) 5 Vitamin E A A A B B B B G K 4 5 DAYS MINE MINERAL SCREEN – WHOLE BLOOD SPORTS/PERFORMANCE PROFILE Red Cell Potassium Red Cell Magnesium Red Cell Calcium Red Cell Manganese Red Cell Zinc Red Cell Copper Red Cell Selenium Red Cell Chromium TAT 5 DAYS SPOR TAT B K 7,13 13 Calcium Magnesium Zinc Iron Copper Chromium Manganese DAYS VIT2 A A A B B 7,13 RMIN H H Patients taking supplements may be advised to stop medication prior to testing. Key: See page 15 for sample taking and special handling instructions. 97 Vitamins, Nutrition and Lifestyle TEST CODE SAMPLE REQS TAT Antioxidant Status (total/activity) Ceruloplasmin Copper (Serum) Essential Fatty Acid Profile (Red Cell) Folate (Red Cell) FRAD CERU COPP EFAR RBCF B B B A A 4 A 7 days 1 day 5 days 5-7 days 2 days Hair Mineral Analysis HMA 2g (2 tbsp) of hair close to scalp 10 days Magnesium (Blood) Mineral Screen Mineral Screen – Whole blood Mineral Screen and Rbc Industrial Heavy Metal Screen (Trace Metals) Omega 3/Omega 6 (see page 99) Selenium (Blood) Selenium (Serum) Sports/Performance Profile Zinc (Blood) Zinc (Serum/Plasma) RCMG MINE RMIN A or H B K H H 4 days 5 days 5 days TRAC B H K 7-10 days OMG3 SELR SELE SPOR RBCZ ZINC A 4 A or H B A A A B B B B G K 4 A or H K 5-7 days 4 days 4 days 5 days 5 days 1 day Zinc (Urine) URZN CU 5 days This provides valuable diagnostic information, which can be assimilated with other diagnostic markers in the assessment of nutritional status, and compares favourably to semi-quantitative functional assays. For fertility and lifestyle refer to page 36. 98 TEST CODE 1,25 Vitamin D Vitamin A (Retinol) Vitamin B Profile Vitamin B1 (Thiamine) Vitamin B2 (Riboflavin) Vitamin B3 (Nicotinamide) Vitamin B6 (Pyridoxine) Vitamin B9 (Folic acid) – Red cell Vitamin B9 (Folic acid) – Serum Vitamin B12 (Active) Vitamin B12 (Active) / Red Cell Folate Vitamin C (Active) Vitamin D (1, 25 Dihydroxy) Vitamin D (25-OH) Vitamin E (Alpha Tocopherol) Vitamin Profile 1 Vitamin Profile 2 D3 VITA VBP VIT1 VIB2 VIB3 VITB RBCF FOLA B12 B12F VITC D3 VITD VITE VITS VIT2 SAMPLE REQS B (Frozen) B A A B 13 A 13 A 13 B A 13 A B B A B B (Frozen) 7 B (Frozen) B B A B B 7,13 A A A B B 7,13 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. TAT 5-8 days 5 days 5 days 5 days 5 days 5 days 5 days 2 days 1 day 1 day 2 days 5 days 5-8 days 4 hrs 5 days 5 days 5 days Omega3/6 Essential Red Cell Fatty Acids Omega-3/Omega-6 Omega-3 is the name given to a family of polyunsaturated fatty acids, which the body needs but cannot manufacture itself. Omega-3 fats are used as the building blocks for fat derived hormones such as prostaglandins and leukotrienes. The hormones with an Omega-3 base tend to reduce inflammation, while those that have an Omega-6 base increase inflammation. In the cell membrane the competition between these two essential fats has a direct bearing on the type of local hormone produced and the level of inflammation in the cell. The Omega-6 to Omega-3 ratio in the cell membranes is key to the development of inflammatory disorders such as rheumatoid arthritis and heart disease. Diets low in oily fish and high in grains will promote inflammation and affect good health. The ratio of Omega-6 to Omega-3 in the West is around 15 to 1, fifteen times more Omega-6 on the cell membrane promoting inflammation. Having twice as much Omega-6 is considered by most experts to be the optimal amount but a ratio of 2:1 is not easy to produce by diet alone. Many people are aware of the health benefits of Omega-3 but the supplementation to achieve optimal health is erratic. Being able to test for Essential Red Cell Fatty Acids (Omega-6/ Omega-3 ratio) identifies a person’s current status and is sufficiently specific to allow an accurate supplementation recommendation to be made. Results show the Omega Ratio with a clear recommendation for the required level of Omega Supplementation (if any) to achieve optimal levels. TEST CODE Omega 3/Omega 6 OMG3 SAMPLE REQS TAT A 4 4 days Results show the ratio of Omega 3 to Omega 6, against an optimal ratio and provide a supplementation recommendation to achieve this optimal ratio. Key: See page 15 for sample taking and special handling instructions. 99 Allergy Allergy, Asthma and Autoimmune diseases are increasing around the world, especially in industrialized countries and affect all ages. Since every country has their own dietary habits there are noteworthy differences in the allergens causing food allergy. UK PROFILE MEDITERRANEAN PROFILE Total IgE with individual IgE Total IgE with individual IgE allergens for: allergens for: allergens for: Food Mix inc. Cod, Cows Milk, Egg White, Soya Bean, Peanut, Wheat A. alternata Cat Epithelium and Dander Cows Milk Egg White House Dust Mite (Dermatophagoides pteronyssinus and Dermatophagoides farinae) Olive Peanut Rye-grass Timothy Grass Food Mix inc. Cod, Cows Milk, Egg White, Soya Bean, Peanut, Wheat Grass Mix inc. Cocksfoot, Meadow, Meadow Fescue, Rye, Timothy Cat Dander Cladosporum Herbarum Dog Dander House Dust Mite Latex Fish: Cod B 100 MIDDLE EAST PROFILE Total IgE with individual IgE Fish: Cod Dust Mix inc. House Dust Mite, Dermatophagoides pteronyssinus, Dermatophagoides farinae, Blatella germanica TAT TAT TAT DAYS DAYS DAYS ALUK ALMD ALME 2 2 B 2 B Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Allergy TEST CODE SAMPLE REQS TAT Allergy – Individual Allergens See list on page 105 Total IgE ALLE IGE B B 2 days 1 day Allergy Profile (UK) Allergy Profile (Mediterranean) Allergy Profile (Middle East) ALUK ALMD ALME B B B 2 days 2 days 2 days Allergy Profile 1 (Food & Inhalants) Allergy Profile 2 (Inhalants) Allergy Profile 3 (Food) Allergy Profile 4 (Nuts & Seeds) Allergy Profile 5 (Children’s Panel) Allergy Profile 6 (Shellfish) Allergy Profile 7 (Finfish) Allergy Profile 8 (Cereal – singles) Allergy Profile 9 (Antibiotics) Allergy Profile 10 (Insects) Allergy Profile 11 (Combined Shellfish/Finfish) Allergy Profile 12 (Milk & Milk Proteins) Allergy Profile 13 (Stone fruit/Rosaceae family) 1A 2A 3A 4A 5A 6A 7A 8A 9A 10A 11A 12A 13A BB B B B B B B B B B B B B 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days Eczema Provoking Profile Rhinitis Provoking Profile ALEC ALRN B B 2 days 2 days Allergen Component Profiles See page 104 Histamine Releasing Urticaria Test ISAC Panel CURT ISAC B B 10-14 days 3 days ECZEMA PROVOKING PROFILE (9 Allergens) Total IgE with individual IgE allergens for: Cat Dander Egg White Egg Yolk Fish Mix Hazelnut House Dust B RHINITIS PROVOKING PROFILE (10 Allergens) Total IgE with Mite Milk Peanut Soya Bean Wheat individual IgE allergens for: TAT Birch Cat Dander Dog Dander Egg White Egg Yolk House Dust Mite Milk Nettle Peanut Timothy Grass IMMUNOCAP ISAC PANEL Simultaneous measurement in a single test of specific antibodies to more than one hundred allergen components from more than 50 preselected allergen sources. TAT TAT DAYS DAYS DAYS ALEC ALRN ISAC 2 2 B Key: See page 15 for sample taking and special handling instructions. 3 B 101 Allergy IgE ALLERGY PROFILE 1 (Food and inhalants) IgE ALLERGY PROFILE 3 (Food) Total IgE with individual IgE Tree Mix, inc. allergens for: Box Elder Common Silverbirch Grass Mix, inc. Hazel Cocksfoot Oak Meadow Fescue London Plane Meadow Maple Rye Sycamore Timothy Total IgE with individual IgE allergens for: Codfish Cows Milk Egg White Egg Yolk Single Allergens (19) Beef Bermuda Grass Cat Dander Clam Dust Mix, inc. Common Silver Birch Blatella germanica Cows Milk Dermatophagoides Crab pteronyssinus Dog Dander Dermatophagoides Egg White farinae Egg Yolk Hollister-Stier Labs Fish (Cod) Mould Mix, inc. Hazel Nut A. alternata Horse Dander Aspergillus fumigatus Latex Candida albicans Nettle Cladosporum herbarum Peanut Helminthosporium Shrimp/Prawn halodes Soya Bean TAT Penicillium notatum Wheat Weed Mix, inc. Common Ragweed Giant Ragweed Western Ragweed 2 Kiwi Peanut Sesame Soya Wheat TAT 2 DAYS 3A B IgE ALLERGY PROFILE 4 (Nuts and Seeds) Total IgE with individual IgE Pecan allergens for: Pine Nut Pistachio Almond Poppy Seed Brazil Nut Pumpkin Seed Cashew Sesame Seed Hazel Nut Sunflower Seed Macadamia Nut Walnut Peanut TAT 2 DAYS 4A B DAYS IgE ALLERGY PROFILE 5 (Children’s Panel) 1A B B Total IgE with individual IgE Mite, Pteronyssinus allergens for: Peanut Soya Bean Cat Dander Timothy Grass Cows Milk Wheat Flour Egg White IgE ALLERGY PROFILE 2 (Inhalants) Total IgE with individual IgE allergens for: Alternaria Aspergillus Birch Pollen Cat Dander Cladosporum Common Ragweed Derma farinae Dog Dander House Dust Mite Horse Dander Timothy Grass Egg Yolk 2 DAYS 5A TAT B 2 DAYS 2A B 102 TAT Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Allergy IgE ALLERGY PROFILE 10 (Insects) IgE ALLERGY PROFILE 6 (Shellfish) Total IgE with individual IgE Lobster allergens for: Octopus Prawns/Shrimp Clam Scallop Crab Squid Crawfish/Crayfish TAT 2 DAYS Total IgE with individual IgE Paper Wasp Yellow Hornet allergens for: White Faced Hornet Common Wasp, Yellow Jacket Bee 6A B B Total IgE with individual IgE Sardine/Pilchard Salmon allergens for: Sole Codfish Swordfish Mackerel Tuna Plaice IgE ALLERGY PROFILE 11 (Combined Shellfish/Finfish) TAT 2 Total IgE with individual IgE Salmon Scallop allergens for: Squid Cod Tuna Prawn/Shrimp DAYS 7A B Total IgE with individual IgE allergens for: Barley Oat Rye Wheat TAT 2 DAYS 11A B IgE ALLERGY PROFILE 12 (Milk & Milk Proteins) IgE ALLERGY PROFILE 8 (Cereal – singles) TAT 2 DAYS Total IgE with individual IgE Cow’s Milk Goat’s Milk allergens for: Mare’s Milk Alpha-lactalbumin – Sheep’s Milk milk proteins Whey (cow and ewe) Beta-lactoglobulin – milk proteins Casein – milk proteins 8A B TAT 2 DAYS 12A B IgE ALLERGY PROFILE 13 (Stone Fruit, Rosaceae family) IgE ALLERGY PROFILE 9 (Antibiotics) Total IgE with individual IgE Pen G Pen V allergens for: TAT 2 DAYS Total IgE with individual IgE Cherry Peach allergens for: Pear Almond Plum Apple TAT Raspberry Apricot Strawberry DAYS 2 9A B 2 DAYS 10A IgE ALLERGY PROFILE 7 (Finfish) Ampicillin Amoxicillin Cefaclor TAT 13A B Key: See page 15 for sample taking and special handling instructions. 103 Allergy SPECIALIST ALLERGY TESTING ImmunoCAP Allergen Components, highly refined specific allergy testing, employs carefully selected components and recombinant engineered allergens. Using ImmunoCAP Allergen Components can help refine the understanding of sensitization, by assessing a person’s sensitization pattern at the molecular level. When used in conjunction with traditional extract-based IgE testing, ImmunoCAP Allergen Components provide information at the individual component level. For more information, please contact the Immunology Department on 020 7025 7917. 104 TEST CODE* SAMPLE REQS TAT Alternaria Components Apple Components Aspergillus Components Birch Components Brazil Components Cashew Components Cat Components Celery Components Cow’s Milk Components Dog Components Egg Components Fish Components Hazelnut Components House Dust Mite Components Kiwi Components Latex Components Olive Components Peach Components Peanut Components Shrimp Components Soybean Components Timothy Grass Components Venom Components Wall Pellitory Components Walnut Components Wheat Components ZZ1 ZZ36 ZZ2 ZZ3 ZZ4 ZZ35 ZZ5 ZZ6 ZZ7 ZZ8 ZZ9 ZZ10 ZZ11 ZZ12 ZZ32 ZZ13 ZZ14 ZZ15 ZZ16 ZZ17 ZZ18 ZZ19 ZZ33 ZZ20 ZZ34 ZZ21 B B B B B B B B B B B B B B B B B B B B B B B B B B 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days PR-10 Proteins Lipid Transfer Proteins Profilins Polcalcins Seed Storage Proteins Glycan Determinants Lipocalins Parvalbumins Serum Albumins Tropomyosins ZZ22 ZZ23 ZZ24 ZZ25 ZZ26 ZZ27 ZZ28 ZZ29 ZZ30 ZZ31 B B B B B B B B B B 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days 3 days * Please quote the ZZ Code when requesting Allergen Component Profiles. Allergy Allergens, when requested individually are priced as single tests, sample 1 x B (up to 5 allergens). Protein allergens are manufactured by Thermofisher (Phadia) and are IgE specific. GRASS POLLENS Bahia grass g17 Barley g201 Bermuda grass g2 Brome grass g11 Canary grass g71 Cocksfoot g3 Common reed g7 Cultivated oat g14 Cultivated rye g12 Cultivated wheat g15 False oat-grass g204 Johnson grass g10 Maize, Corn g202 Meadow fescue g4 Meadow foxtail g16 Meadow grass, Kentucky blue g8 Redtop, Bentgrass g9 Rye-grass g5 Salt grass g203 Sweet vernal grass g1 Timothy grass g6 Velvet grass g13 Wild rye grass g70 WEED POLLENS Alfalfa w45 Camomile w206 Careless weed w82 Cocklebur w13 Common pigweed w14 Common ragweed w1 Dandelion w8 Dog fennel w46 False ragweed w4 Firebush (Kochia) w17 Giant ragweed w3 Goldenrod w12 Goosefoot, Lamb’s quarters w10 Japanese Hop w22 Lupin w207 Marguerite, Ox-eye daisy w7 Mugwort w6 Nettle w20 Plantain (English), Ribwort w9 Rape w203 Rough marshelder w16 Saltwort (prickly), Russian thistle w11 Scale, Lenscale w15 Sheep sorrel w18 Sugar-beet w210 Sunflower w204 Wall pellitory w19 Wall pellitory w21 Western ragweed w2 Wormwood w5 Yellow dock w23 TREE POLLENS Acacia t19 American beech t5 Australian pine t73 Bald cypress t37 Bayberry t56 Box-elder t1 Cedar t212 Cedar elm t45 Chestnut t206 Common silver birch t3 Cottonwood t14 Cypress t222 Date t214 Douglas fir t207 Elder t205 Elm t8 Eucalyptus, Gum-tree t18 European ash t25 Grey alder t2 Hackberry t44 Hazel t4 Horn beam t209 Horse chestnut t203 Italian/Mediterranean/ Funeral cypress t23 Japanese cedar t17 Linden t208 Maple leaf sycamore, London plane t11 Melaleuca, Cajeput-tree t21 Mesquite t20 Mountain juniper t6 Mulberry t70 Oak t7 Oil Palm t223 Olive t9 Paloverde t219 Pecan, Hickory t22 Peppertree t217 Pine t213 Privet t210 Queen palm t72 Red cedar t57 Red mulberry t71 Russian olive t54 Scotch broom t55 Spruce t201 Sweet gum t211 Walnut t10 White ash t15 White hickory t41 White pine t16 Willow t12 Virginia live oak t218 MICROORGANISMS Acremonium kiliense m202 Alternaria alternata m6 Aspergillus flavus m228 Aspergillus fumigatus m3 Aspergillus niger m207 Aspergillus terreus m36 Aureobasidium pullulans m12 Botrytis cinerea m7 Candida albicans m5 Chaetomium globosum m208 Cladosporium herbarum m2 Curvularia lunata m16 Epicoccum purpurascens m14 Fusarium proliferatum (F. moniliforme) m9 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. 105 Allergy Setomelanomma rostrata (Helminthosporium halodes) m8 Malassezia spp. m227 Mucor racemosus m4 Penicillium chrysogenum (P. notatum) m1 Penicillium glabrum m209 Phoma betae m13 Pityrosporum orbiculare (syn. Malassezia) m70 Rhizopus nigricans m11 Staphylococcal enterotoxin A m80 Staphylococcal enterotoxin B m81 Staphylococcal enterotoxin C m223 Staphylococcal enterotoxin TSST m226 Stemphylium herbarum (S. botryosum) m10 Tilletia tritici m201 Trichoderma viride m15 Trichophyton mentagrophytes var. goetzii m210 Trichophyton mentagrophytes var. interdigitale m211 Trichophyton rubrum m205 Trichosporon pullulans m203 Ulocladium chartarum m204 EPIDERMALS AND ANIMAL PROTEINS Budgerigar droppings e77 Budgerigar feathers e78 Camel dander u328 Canary bird droppings e200 Canary bird feathers e201 Cat dander e1 Chicken droppings e218 Chicken feathers e85 Chicken, serum proteins e219 Chinchilla epithelium e208 Cow dander e4 Deer epithelium e216 Dog dander e5 Duck feathers e86 Ferret epithelium e217 Finch feathers e214 Fox epithelium e210 Gerbil epithelium e209 Goat epithelium e80 106 Goose feathers e70 Guinea pig epithelium e6 Hamster epithelium e84 Horse dander e3 Horse, serum proteins e205 Mink epithelium e203 Mouse epithelium e71 Mouse epithelium, serum proteins and urine proteins e88 Mouse serum proteins e76 Mouse urine proteins e72 Parakeet droppings e197 Parakeet feathers e196 Parakeet serum e198 Parrot feathers e213 Pigeon droppings e7 Pigeon feathers e215 Rabbit epithelium e82 Rabbit, serum proteins e206 Rabbit, urine proteins e211 Rat epithelium e73 Rat epithelium, serum proteins and urine proteins e87 Rat serum proteins e75 Rat urine proteins e74 Reindeer epithelium e202 Sheep epithelium e81 Swine epithelium e83 Turkey feathers e89 MITES Acarus siro (Storage mite) d70 Blomia tropicalis (House dust mite) d201 Dermatophagoides farinae (House dust mite) d2 Dermatophagoides microceras (House dust mite) d3 Dermatophagoides pteronyssinus (House dust mite) d1 Euroglyphus maynei (House dust mite) d74 Glycyphagus domesticus (Storage mite) d73 Lepidoglyphus destructor (Storage mite) d71 Tyrophagus putrescentiae (Storage mite) d72 ALLERGEN COMPONENTS nDer p 1 House dust mite d202 rDer p 2 House dust mite d203 rDer p 10 Tropomyosin, House dust mite d205 HOUSE DUST Greer Labs., Inc. h1 Hollister-Stier Labs. h2 INSECTS Berlin beetle i76 Blood worm i73 Cockroach, American i206 Cockroach, German i6 Cockroach, Oriental i207 Fire ant i70 Grain weevil i202 Green nimitti i72 Horse fly i204 Mediterranean flour moth i203 Mosquito i71 Moth i8 VENOMS Bumblebee i205 Common wasp (Yellow jacket i3 European Paper Wasp i77 European hornet i75 Honey bee i1 Paper wasp i4 White-faced hornet i2 Yellow hornet i5 DRUGS Amoxicilloyl c6 Ampicilloyl c5 Cefaclor c7 Chlorhexidine c8 Chymopapain c209 Gelatin bovine c74 Insulin bovine c71 Insulin human c73 Insulin porcine c70 Penicilloyl G c1 Penicilloyl V c2 Pholcodine c261 Morphine c260 Suxamethonium (succinylcholine) c202 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Allergy OCCUPATIONAL Abachi wood dust k212 Bougainvillea k214 Castor bean k71 Chloramin T k85 Cotton seed k83 Ethylene oxide k78 Ficus k81 Formaldehyde/Formalin k80 Green coffee bean k70 Hexahydrophtalic anhydrid k209 Isocyanate HDI (Hexamethylene diisocyanate) k77 Isocyanate MDI (Diphenylmethane diisocyanate) k76 Isocyanate TDI (Toluene diisocyanate) k75 Ispaghula k72 Latex k82 Methyltetrahydrophtalic anhydrid k211 Phthalic anhydride k79 Savinase k206 Silk k74 Silk waste k73 Sunflower seed k84 Trimellitic anhydride, TMA k86 PARASITES Anisakis p4 Ascaris p1 Echinococcus p2 MISCELLANEOUS Artemia salina, fish feed o202 Cotton, crude fibers o1 Daphnia, fish feed o207 Mealworm o211 MUXF3 CCD, Bromelain o214 Seminal fluid o70 Streptavidin o212 Tetramin, fish feed o203 Tobacco leaf o201 FOODS – FRUITS & VEGETABLES Apple f49 Apricot f237 Asparagus f261 Aubergine, eggplant f262 Avocado f96 Bamboo shoot f51 Banana f92 Beetroot f319 Blackberry f211 Blueberry f288 Broccoli f260 Brussel sprouts f217 Cabbage f216 Carambola f295 Carrot f31 Cauliflower f291 Celery f85 Cherry f242 Cucumber f244 Date f289 Fennel, fresh f276 Fig f328 Garlic f47 Grape f259 Grapefruit f209 Guava f292 Jack fruit f318 Jujube f336 Kiwi f84 Lemon f208 Lettuce f215 Lime f306 Litchi f348 Mandarin (tangerine, clementine, satsumas) f302 Mango f91 Melon f87 Olive (black, fresh) f342 Onion f48 Orange f33 Papaya f293 Passion fruit f294 Peach f95 Pear f94 Persimon (kaki fruit, sharon) f301 Pineapple f210 Plum f255 Potato f35 Pumpkin f225 Raspberry f343 Red currant f322 Rose hip f330 Spinach f214 Strawberry f44 Sweet potato f54 Tomato f25 Watermelon f329 Key: See page 15 for sample taking and special handling instructions. FOODS – SEED, LEGUMES & NUTS Almond f20 Barley f6 Blue vetch f310 Brazil nut f18 Buckwheat f11 Cashew nut f202 Chick pea f309 Coconut f36 Common millet f55 Fenugreek f305 Foxtail millet f56 Gluten f79 Green bean f315 Hazel nut f17 Japanese millet f57 Lentil f235 Lima bean f182 Linseed f333 Lupin seed f335 Macadamia nut f345 Maize, Corn f8 Oat f7 Pea f12 Peanut f13 Pecan nut f201 Pine nut, pignoles f253 Pistachio f203 Poppy seed f224 Pumpkin seed f226 Quinoa f347 Rape seed f316 Red kidney bean f287 Rice f9 Rye f5 Sesame seed f10 Soybean f14 Spelt wheat f124 Sugar-beet seed f227 Sweet chestnut f299 Walnut f256 Wheat f4 White bean f15 107 Allergy FOODS – SPICES Allspice f339 Anise f271 Basil f269 Bay leaf f278 Black pepper f280 Caraway f265 Cardamon f267 Chilipepper f279 Clove f268 Coriander f317 Curry (Santa Maria) f281 Dill f277 Fennel seed f219 Ginger f270 Green pepper (unripe seed) f263 Lovage f275 Mace f266 Marjoram f274 Mint f332 Mustard f89 Oregano f283 Paprika, Sweet pepper f218 Parsley f86 Saffron f331 Sage f344 Tarragon f272 Thyme f273 Vanilla f234 FOODS – FISH, SHELLFISH & MOLLUSCS Abalone f346 Anchovy f313 Blue mussel f37 Cat fish f369 Chub mackerel f50 Clam f207 Crab f23 Crayfish f320 Eel f264 Fish (cod) f3 Grouper f410 Gulf flounder f147 Haddock f42 Hake f307 Halibut f303 Herring f205 Jack mackerel, Scad f60 Langust (spiny lobster) f304 108 Lobster f80 Mackerel f206 Megrim f311 Octopus f59 Orange roughy f412 Oyster f290 Pacific squid f58 Plaice f254 Pollock f413 Red snapper f381 Salmon f41 Sardine (Pilchard) f308 Sardine, Japanese Pilchard f61 Scallop f338 Shrimp f24 Snail f314 Sole f337 Squid f258 Swordfish f312 Tilapia f414 Trout f204 Tuna f40 Walleye pike f415 Whitefish (Inconnu) f384 FOODS – ADDITIVES Carob (E410) f296 Guar, guar gum (E412) f246 Gum arabic (E414) f297 Tragacanth (E413) f298 Cochineal extract (Carmine red) (E120) f340 FOODS – MISCELLANEOUS Cacao f93 Coffee f221 Honey f247 Hop (fruit cone) f324 Malt f90 Mushroom (champignon) f212 Tea f222 Yeast f45 FOODS – EGG & FOWL Chicken f83 Egg f245 Egg white f1 Egg yolk f75 Turkey meat f284 FOODS – MEAT Beef f27 Elk/moose meat f285 Horse meat f321 Mutton f88 Pork f26 Rabbit f213 FOODS – MILK Cheese, cheddar type f81 Cheese, mold type f82 Cow’s whey f236 Goat milk f300 Mare’s milk f286 Milk f2 Milk, boiled f231 Sheep milk f325 Sheep whey f326 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Cytology / Histopathology RECORD… …the patient’s full name and date of birth on the vial. …the patient information and medical history on the cytology requisition form. OBTAIN… …an adequate sample from the cervix using a Cervex Brush (broom-like device). Insert the central bristles of the brush into the endocervical canal deep enough to allow the shorter bristles to fully contact the ectocervix. Push gently and rotate the brush in a clockwise direction five times. RINSE… …the Cervex Brush immediately into the PreservCyt Solution vial by pushing it into the bottom of the vial 10 times, forcing the bristles apart. As a final step, swirl the brush vigorously to further release material. Visually inspect the Cervex Brush to ensure that no material remains attached. Discard the brush. Do not leave the head of the Cervex Brush in the vial. TIGHTEN… …the cap so that the black torque line on the cap passes the black torque line on the vial. Do not over-tighten. PLACE… …the vial and requisition in a specimen bag for transportation to TDL. Key: See page 15 for sample taking and special handling instructions. 109 Cytology / Histopathology The Cytology Laboratory provides a rapid service for liquid based gynaecological samples. Urine cytology is performed in house while other non-gynaecological cytology samples are referred to a CPA accredited laboratory for reporting. Human papilloma virus (HPV), Chlamydia and Gonorrhoea testing is carried out routinely from ThinPrep vials and can be requested at the time of smear taking or up to 21 days post sampling. Laboratory hours The laboratory department is open between 9.00am and 6.00pm. Out of hours results available on 020 7307 7373. Urgent samples It is helpful if requests for urgent samples can be discussed with the Cytology Manager. Please telephone 020 7307 7323. Use of service/Information required Request forms must include 3 identifiers (this can be patient’s full name = 2, date of birth, hospital number or reference number) and need to accompany each sample. This form needs to include appropriate clinical information including treatment and histological diagnosis, and the LMP for gynaecological samples. Tick boxes are provided to assist you. The specimen container also needs to be clearly labelled with patient details. Forms and samples which are mismatched will result in the sample being returned to the sender for correction and will delay to the report turn around time. Clinical advice The Consultant Cytopathologists and the Advanced Practitioner work together to provide clinical and technical advice, including recommendations for follow-up, HPV testing and management of complex cases. To contact the department directly, please telephone 020 7307 7323. 110 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Cytology / Histopathology Gynaecological Samples The Cytology department processes gynaecological samples directly referred from all sectors of practice – Health Screening, Occupational Health, GP’s, Consultants, Colposcopy Units, Clinics, Hospitals and other Laboratories. Conventional PAP slides are no longer accepted, Liquid Based Cytology (LBC) is processed using the Hologic ThinPrep system. The Doctors Laboratory uses the Hologic Imaging system as an enhanced Quality Control. Information for Sample Takers is available by contacting the department. Importantly the head of the cervical broom must NOT be left in the vial. The use of lubricant interferes with LBC sampling and may result in an inadequate sample. Use of lubricant is not recommended as it can affect the processing quality of the sample. Supplies of Thinprep vials are available from TDL. TEST CODE PAP – Thin Prep (Cervical Cytology) PAPT SAMPLE REQS TAT TPV 2-3 days Additional tests from Hologic Thin Prep Vial (HPV – see page 114) Tests are priced individually. Please request tests individually. ThinPrep Vials are kept for 21 days after receipt of sample. Requests for additional tests from the vial already received in the laboratory can be made by contacting the Department Manager. Infection by PCR (singles) Chlamydia trachomatis N. Gonorrhoea Chlamydia/Gonorrhoea Mycoplasma genitalium Ureaplasma urealyticum Trichomonas vaginalis Gardnerella vaginalis Herpes Simplex I/II TPCR TGON TCG MGEN UGEN TVPC GVPC HERD TPV TPV TPV TPV TPV TPV TPV TPV 5 days 5 days 5 days 5 days 5 days 5 days 5 days 5 days 7 STI PROFILE BY PCR FROM THIN PREP VIAL Chlamydia trachomatis N. gonorrhoea Mycoplasma genitalium Ureaplasma Trichomonas vaginalis Gardnerella vaginalis Herpes Simplex I/II All tests can be requested indivdually TAT 2 DAYS PP12 TPV Key: See page 15 for sample taking and special handling instructions. 111 Cytology / Histopathology ThinPrep® PAP Test Cervex Brush Protocol PREPARE ALL EQUIPMENT BEFORE STARTING THE PROCEDURE • Note expiry date on sample collection vial. Do not use expired vials. • Ensure the entire plastic seal is removed from the lid of the vial and discarded. • Complete patient details on both the request form and the vial. Specimens may be returned or discarded if details are missing from the vial. • Remove the lid from the vial before taking the sample. • Use of lubricant is not recommended. DO DON’T •If excessive mucus is present, this should be gently removed before sampling. •DO NOT detach the head of the Cervex Brush into the vial. •Use either the Cervex Brush (broom-like device) on its own or a Plastic spatula and endocervical brush combination. •DO NOT routinely clean the cervix or take a cervical swab before taking a cervical sample. •The Cervex Brush should be rotated 5 times in a clockwise direction. The Plastic spatula should be rotated through 360 degrees and the endocervical brush rotated through one quarter to one half turn. •An endocervical brush should never be used in isolation. •Immediately rinse the collected material into the vial. •DO NOT leave the collection device sitting in the vial whilst dealing with the patient. •DO NOT over-tighten the lid on the vial. •Replace the lid and tighten so that the black torque line on the cap passes the black torque line on the vial to avoid leakage. •DO NOT place multiple labels on the outside of the vial. •Keep the unlabelled portion of the sample vial free of labels so that the contents can be seen. •DO NOT use expired vials. •If barcoded labels are used these must be applied horizontally around the vial. •Samples should be sent to the laboratory without delay. 112 •DO NOT under any circumstances use a wooden spatula. •DO NOT apply barcoded labels vertically on the vial. •DO NOT delay the sending of vials to the laboratory. The sample needs to be processed within 3 weeks of collection. •DO NOT use excessive lubricant – please avoid if possible. Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Cytology / Histopathology Introducing Triage and Test of Cure Cervical cancer prevention is in transition, with a move from cytology only based screening programmes to HPV based screening. HPV testing will be important to decide which women need to be referred for further evaluation or treatment. Treatment will be aimed at women who are at risk of developing cervical cancer and extended screening intervals should become more confidently accepted after a negative HPV test. The aetiological role of HPV infection among women with cervical cancer is now clearly established, and the use of testing for high risk HPV in the management of low grade cytological abnormalities of the cervix well documented. There are over 100 subtypes of HPV, most of which do not cause significant disease but some (notably types 16 and 18 which account for 70% of all cervical cancer cases worldwide) have been identified and confirmed as causal agents for cervical cancer. These are known as High Risk HPV (HR-HPV) types. Although most women will have at least one HPV infection at some time in their lives, the majority of HPV infections are transient and are cleared by the immune system. A small but still significant number of HPV infections do not clear spontaneously, and it is these women who are at an increased risk of developing cervical intraepithelial neoplasia (CIN) and cervical cancer. Because it is recognised that almost 100% of cervical cancers contain HPV DNA women with no evidence of HR-HPV infection are extremely unlikely to develop cervical cancer in the short to medium term. HPV Triage and Test of Cure has been introduced across the NHS Cervical Screening Programme in keeping with national protocols. All women in the screening age range of 24.5 – 64 are eligible for HPV Triage and Test of Cure. HPV Triage introduces reflex testing for HR-HPV for women whose cervical cytology shows either borderline changes or low grade dyskaryosis. A recommendation to refer for colposcopy will be made if HR-HPV is detected. If results show that HPV is not detected, the recommendation will be to return to routine screening. Test of Cure uses HR-HPV testing to assess the risk of residual or recurrent disease in women who have been treated for any grade of CIN. Women who have normal cytology and are negative for HR-HPV at the time of their follow up screening appointment are at very low risk of residual disease, and can be returned to 3 yearly recall, unless advised different by their gynaecologist. If HR-HPV is detected she needs to be referred again for colposcopy and followed up in accordance with national guidelines. This strategy will also be applied to women receiving treatment for CGIN or for invasive disease. TDL provides a HR-HPV Assay that is an NHS approved qualitative DNA assay, able to collectively test for 14 high risk HPV subtypes (16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 68) and partially genotype 16 and 18. This assay provides the minimum necessary information for patient stratification. Any request for Cervical Cytology that is not accompanied by a specific request for HPV testing, but is reported with either borderline or low grade changes, will automatically reflex to 16/18 HPV high risk DNA test. The cost of this reflexed test is included in the price of the cervical cytology (PAPT). There is no additional charge. For women whose cytology findings are high grade, the recommendation for referral for colposcopy will continue to be given, even if HPV DNA is not detected. Key: See page 15 for sample taking and special handling instructions. 113 Cytology / Histopathology The primary benefit of using HPV testing lies in its high sensitivity and high negative predictive value, but HPV DNA testing, on its own, cannot identify progression from transient to a transforming infection or oncogenic activity. This is when an HPV infection has transformed from merely being present and insignificant, to become an integrated infection. The expression of viral oncoproteins E6 and E7, which affect cell cycle control, initiate the cervical cancer process. The detection of E6/E7 mRNA confirms the persistent expression of viral oncoproteins in human cells. TEST CODE SAMPLE REQS TAT HPV DNA types 16, 18 + collective reporting HPV TPV 2 days of 12 other High Risk DNA subtypes *If HPV has not been included with a request for Thin Prep PAP (PAPT) and the cervical cytology shows borderline or mild changes, this High Risk HPV (HR-HPV) DNA test will be undertaken at no additional charge. HR-HPV subtypes are reported collectively (negative/positive) with Types 16 and 18 reported if present. HPV DNA types 16, 18 + all other HPV TPV 2 days High Risk DNA subtypes High Risk HPV (HR-HPV) subtypes, reported collectively (negative/positive) with Types 16 and 18 reported if present. HPV Typed DNA HP20 HPV DNA subtypes will be reported (5 low risk and 14 high risk). TPV/PCR 5 days HPV Typed DNA/mRNA HPVT TPV 5 days If one or more of types 16, 18, 31, 33 or 45 are positive, reflex testing for expression of E6/E7 oncoproteins will be undertaken. HPV mRNA only HPVR TPV 3 days Usually requested by laboratories who have undertaken DNA testing, this option confirms expression of E6/E7 oncoproteins. The benefit of a negative HPV result is its negative predictive value – meaning a negative result indicates that a patient is at very low risk of developing cervical disease. The Negative Predictive Value (NPV) for both DNA and mRNA is the same. DNA based tests detect presence of virus only, whilst the mRNA-based test detects the persistence of viral oncogenic expression. mRNA testing can be undertaken from Hologic Thin Prep samples only. HPV/PAPT Combined Report Where HPV result is reported with Cervical Cytology, a recommendation for patient management will be given, based on the combined findings. Patients who are monitored by a Colposcopist/Gynaecologist will receive a recommendation indicating that patient management is at clinician’s discretion. 114 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Cytology / Histopathology Non-Gynaecological Cytology Urines Ideally 30mls of a freshly fully voided (empty bladder) mid-morning urine sample should be submitted in a suitable container ideally containing a preservative (available from TDL supplies). Use of a preservative will ensure the cellular material is preserved up to 48 hours. A mid stream sample is NOT recommended for cytological assessment as it could lead to a low cellular yield. If a delay (> 24 hours) in reaching the laboratory is anticipated) samples should be refrigerated at 4° C. Sputum Sputum should be collected on at least three occasions if underlying lung carcinoma is suspected. A single sputum is sufficient for microbiological assessment. Sputum should be sent to the laboratory immediately following production, or stored in a universal container containing cytolyt cell fixative if there is a likely delay. Please note that this is only acceptable if sputum only for Cytology. Microbiology cannot be performed on fixed material. Early morning sputum is ideal, but contamination with food, toothpaste and tobacco should be avoided. Fluids All available material should be submitted in a sterile container without fixative as quickly as possible. If any delay is anticipated, the material should be submitted in cytolyt fixative. Cerebrospinal fluid (CSF) Ideally CSF should be submitted fresh or as an air dried cytospin slide, unstained and in a plastic transport slide box. A minimum of 3mls should be submitted either in fresh form or spun on multiple slides for cytopathologists’ review and opinion. Please contact TDL Cytology for advice if required on 020 7307 7323 / 7373. URINE/SPUTUM/FLUID TEST CODE SAMPLE REQS TAT CATF 4 Fluid Cytology Urine Cytology (Urine cytology containers available from TDL Supplies) Fluid 3 days URCY Urine 2 days 21 HISTOPATHOLOGY TEST CODE Category 1 Category 2 Category 3 Category 4 Category 5 CAT1 CAT2 CAT3 CAT4 CAT5 SAMPLE REQS TAT Single small Small medium Medium Large Large complex from 3-5 days from 3-5 days from 3-5 days from 3-5 days from 3-5 days Key: See page 15 for sample taking and special handling instructions. 115 116 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Screening for Drugs of Abuse / Alcohol DRUGS OF ABUSE SCREENING DRUGS OF ABUSE PROFILE – RANDOM URINE SAMPLE/NO CHAIN OF CUSTODY DRUGS OF ABUSE PROFILE – WITH CHAIN OF CUSTODY MDMA Alcohol Amphetamines Methadone Barbiturates Metamphetamines Benzodiazepine Methaqualone Cannabinoids Morphine – opiate Cocaine Phencyclidine Codeine – opiate Propoxyphene Dihydrocodeine – opiate Ephedrine TAT TAT Ketamine GCMS 2 5 WITH LSD CONFIRMATION DAYS Ephedrine Amphetamines MDMA Barbiturates Methadone Benzodiazepine Metamphetamines Cannabinoids Morphine – opiate Cocaine Codeine – opiate Dihydrocodeine – opiate TAT TAT 2 DAYS RU/CoC collection containers DOA plus Alcohol DOA3 RU * See page 118 TAT TAT DAYS DAYS 2 5 WITH GCMS CONFIRMATION DOAN RU DRUGS OF ABUSE FROM BLOOD – WITHOUT CHAIN OF CUSTODY DRUGS OF ABUSE PROFILE – WITHOUT CHAIN OF CUSTODY As above but with NO Chain of Custody 2 Amphetamines Barbiturates Tricyclic Antidepressants Benzodiazepine Cannabinoids Opiates TAT 5 DAYS DOAP ALCOHOL PROFILE LFT Alcohol Level CDTMCV B TAT 3 DAYS AP A B G ALCOHOL PROFILE 2 LFT Alcohol Level CDTMCV Urine Ethyl Gluconaride (EtG) Urine Ethyl Sulfate (EtS) DRUGS OF ABUSE FROM HAIR SAMPLES – WITHOUT CHAIN OF CUSTODY Amphetamines Barbiturates Benzodiazepines Cocaine Cannabis Opiates Methadone RU TAT 21 DAYS TAT 3 DOAH DAYS Without Chain of Custody ALCP A B G WITH GCMS CONFIRMATION DAYS DOAL 1,2 5 DAYS HAIN Please contact the laboratory for information and sample collection instructions. Key: See page 15 for sample taking and special handling instructions. 117 Occupational health Chain of custody refers to the system of controls governing the entire urine collection, processing and storage of sample to ensure that a particular urine specimen originated from a particular individual and that the reported results relate, beyond doubt, to that specimen. Chain of custody requires attention to detail so that it is possible to prove that there has been no opportunity for the sample to be accidentally or maliciously adulterated. Sample collection should be undertaken by collectors who are well versed in the protocols of chain of custody. Samples submitted for analysis will undergo initial screening. Urinary creatinine is routinely measured during testing to verify the validity of the sample submitted. Creatinine levels below normal occur when the urine has been diluted, either directly or by drinking large amounts of water before providing the urine sample. Chain of custody containers, forms, seals and barcodes are provided by TDL on request. All Chain of Custody, and non-chain, samples with positive findings will proceed to identification/confirmation by Gas Chromotography/Mass Spectrometry. OCCUPATIONAL HEALTH – TRACE METALS IN BLOOD TEST CODE Aluminium Arsenic Cadmium Chromium Cobalt (Serum) Copper (Serum) Lead Lead Profile (Hb, ZPP, Lead) Magnesium Manganese (Serum) Mercury Nickel Silver Trace Metal (Blood) Profile Zinc (Serum/Plasma) ALUM ARS CADM CHRO COBB COPP LEAD LEAZ MG MANG MERC NICK SILV TRAC ZINC SAMPLE REQS TAT K A or H A or H A B B A A 13 B B A or H B B B H K K 7 days 5 days 5 days 5 days 5 days 5 days 5 days 3-5 days 4 hrs 5 days 5 days 5 days 5 days 7-10 days 1 day TRACE METAL (BLOOD) PROFILE Aluminium Manganese Iron Calcium Zinc Magnesium Copper Cadmium Mercury Lead Chromium TAT 7-10 DAYS TRAC B H K 118 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Occupational health OCCUPATIONAL HEALTH – TRACE METALS IN URINE TEST CODE Arsenic Cadmium Chromium Cobalt Copper Lead Magnesium Mercury Nickel Silver Zinc ARSE URCD URCR COBA URCU URPB URMG URHG NICU USIL URZN SAMPLE REQS RU RU 30 RU 30 RU 30 CU RU PU RU 1 RU RU CU 30 TAT 5 days 5 days 5 days 5 days 5 days 5 days 1 day 5 days 5 days 5 days 5 days OCCUPATIONAL HEALTH – TESTS FOR SPECIFIC EXPOSURE TEST CODE Beta 2 Microglobulin (Serum) Beta 2 Microglobulin (Urine) Cholinesterase (Blood) Cholinesterase (Serum/Pseudo) Doxepin Level (Sinequan) Pethidine – Urine B2MG UB2M CHRC CHPS DOXE UPET SAMPLE REQS TAT B RU H B A RU 2 days 3 days 5 days 3 days 10 days 4 weeks OCCUPATIONAL HEALTH – MICROBIOLOGY TEST CODE Food Food Handler Screen 1 Food Handler Screen 2 Food Handler Screen 3 Needle Stick Injury Profile FOOD OFH1 OFH2 OFH3 NSI Key: See page 15 for sample taking and special handling instructions. SAMPLE REQS TAT Submit sample B RF, STM A B G RF, STM A B B G RF,2x STM B B 10 days 2 days 2 days 2 days 4 hrs 119 Occupational health FOOD HANDLER SCREEN 1 LFT Nasal Swab Stool for o/c/p and culture B RF STM FOOD HANDLER SCREEN 2 TAT 2 FBC/ESR Biochemistry Profile Nasal Swab Stool for o/c/p and culture DAYS OFH1 OFH2 A B G RF FOOD HANDLER SCREEN 3 STM NEEDLE STICK INJURY PROFILE (Donor – Not recipient) Hep Bs.Ag Hep C Abs Hep C Ag (early detection) HIV 1+2 Abs/p24 Antigen Serum saved for 2 years TAT TAT DAYS HOURS 2 4 OFH3 A B B G RF 120 STM 2 DAYS FBC/ESR Biochemistry Profile Nasal Swab Throat Swab Stool for o/c/p and culture Hep B Surface Antigen Hep C Abs Hep C Ag (early detection) TAT STM NSI B B Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Alphabetical test index TEST CODE SAMPLE REQS TAT 1,25 Vitamin D 5 HIAA D3 RU5H B (Frozen) PU 1 5-8 days 5 days 7 STI’s by PCR PP12 FCRU/PCR/TPV/Semen 2 days 17 Hydroxyprogesterone ACTH (Adreno Corticotrophic Hormone) Activated Protein C Resistance Acute Viral Hepatitis Screen Adenovirus Antibodies (CFT) IgG Adrenal Cortex Antibodies Albumin Alcohol (Legal) Police Blood Sample Alcohol (Medical) Alcohol (Urine) Alcohol Profile Alcohol Profile 2 Aldolase Aldosterone Alkaline Phosphatase Allergen Component Profiles Allergy – Individual Allergens Allergy Profile (Mediterranean) Allergy Profile (Middle East) Allergy Profile (UK) Allergy Profile 1 (Food & Inhalants) Allergy Profile 2 (Inhalants) Allergy Profile 3 (Food) Allergy Profile 4 (Nuts & Seeds) Allergy Profile 5 (Children’s Panel) Allergy Profile 6 (Shellfish) Allergy Profile 7 (Finfish) Allergy Profile 8 (Cereal – singles) Allergy Profile 9 (Antibiotics) Allergy Profile 10 (Insects) Allergy Profile 11 (Combined Shellfish/Finfish) Allergy Profile 12 (Milk & Milk Proteins) Allergy Profile 13 (Stone fruit/Rosaceae family) Alpha 1 Antitrypsin (Serum) Alpha 1 Antitrypsin (Stool) Alpha 1 Antitrypsin Genotype – PI*M, PI*S, PI*Z Alpha Feto Protein ALT (Alanine Aminotransferase) 17OH ACTH APCR AHSC ADAB ACTX ALB LALC ALCO UALC AP ALCP ALDO ALDN ALP B J 1 C (Frozen) 4,18 B B B B Police Sample G 1 RU A B G A B G RU B B B 5 days 1 day 3 days 4 hrs 2 days 2 days 4 hrs 3 weeks 4 hrs 4 hrs 3 days 3 days 5 days 5 days 4 hrs ALLE ALMD ALME ALUK 1A 2A 3A 4A 5A 6A 7A 8A 9A 10A B B B B BB B B B B B B B B B 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 2 days 98 19 45, 51, 70, 111 31 31 25 53, 62 53, 68 53 19 19 19 19 117 117 19 31 19 104 101, 105 100-101 100-101 100-101 101-102 101-102 101-102 101-102 101-102 101, 103 101, 103 101, 103 101, 103 101, 103 11A B 2 days 101, 103 12A B 2 days 101, 103 13A B 2 days 101, 103 A1AT A1AF B RF 1 day 10 days 19 19 GENE A 9 3 weeks 19 AFP ALT B B 4 hrs 4 hrs Key: See page 15 for sample taking and special handling instructions. PAGE 31, 71 19 121 Alphabetical test index TEST Alternaria Components Aluminium Amenorrhoea Profile Amikacin Level (State dose) Amino Acid (Serum/Plasma) Amino Acid Quantitative (Urine) Amitriptyline Ammonia Amniocentesis – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days) Amoebic (E. histolytica) Antibodies Amoebic (E. histolytica) Antigen Amylase Anaemia Profile Anafranil (Clomipramine) ANCA (Anti-Neutrophil Cytoplasmic Abs) Andropause Profile Androstenedione Angiotensin Converting Enzyme Antenatal Profile Anti CCP Antibodies (RF) Anti Sla (Soluble Liver Antigen) Abs Anti-Ri Antibodies CHANGE Antimullerian Hormone (Elecsys/Roche) Antinuclear Antibodies (titre & pattern) Antioxidant Status (total/activity) Antistaphylolysin Titre (SGOT) Antistreptolysin Titre/ASOT Antithrombin Ill Apolipoprotein A1 (12 hrs fasting) Apolipoprotein B (12 hrs fasting) Apolipoprotein E Apolipoprotein E genotype – E2, E3, E4 Apple Components APTT/KCCT Arsenic (Blood) Arsenic (Urine) Aspergillus Components Aspergillus Precipitins AST (SGOT) Atypical Antibody Screen (handwritten tube label) 122 CODE SAMPLE REQS TAT ZZ1 ALUM AMEN AMIK AMIN UAAQ AMTR AMMO B K B B 4 B RU A 4 A (Frozen) 15 3 days 7 days 4 hrs 4 hrs 7 days 7 days 5 days 4 hrs AF 9 5-15 days AFAT AMAG AMY ANAE CHLO ANCA ANDP ANDR ACE ANTE CCP LSA RIAB AMH ANAB FRAD ASTT ASLT A111 APOA APOB APOE APEG ZZ36 KCCT ARS ARSE ZZ2 ASPP AST B RF B A A B A B B B B (Frozen) B A A 33 B B B G B B B B B B B B C (Frozen) 4,9,18 B B B (fasting) A 9 B C 18 A or H RU 30 B B B 2 days 2 days 4 hrs 2 days 7 days 2 days 8 hrs 1 day 4 hrs 3 days 2 days 10 days 3 days 4 hrs 2 days 7 days 2 days 2 days 3 days 3 days 3 days 5 days 5 days 3 days 4 hrs 5 days 5 days 3 days 5 days 4 hrs 59 59 19 25, 27 96 53 31, 34 31 19 25, 27 53 53 53 19, 31, 34 53 98 53 53 25 19 19 19 79 104 25 19, 118 19, 119 104 68 19 AASC A 22,33 2 days 25 ABK Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. PAGE 104 19, 118 31, 35 95 19 19 96 19 79 Alphabetical test index TEST CODE AUTO Autoantibody Profile I ENDO Autoantibody Profile II B12F B12 (Active)/Red Cell Folate RBJP Bence-Jones Protein B2MG Beta 2 Microglobulin (Serum) UB2M Beta 2 Microglobulin (Urine) HCGQ Beta HCG (Oncology) QHCG Beta HCG (Quantitative) HCO3 Bicarbonate Bilharzia (Schistosome) Antibody Screen BILH SHAG Bilharzia (Schistosome) Antigen USCH Bilharzia (Urine) DBIL Bilirubin (Direct/Conjugated) BILI Bilirubin (Total/Indirect/Conjugated) UBIL Bilirubin (Urine) Birch Components ZZ3 BISM Bismuth Blood Culture BCUL FILM Blood Film Examination ABO Blood Group † BNP BNP (NT-pro BNP) BONE Bone Screen BON2 Bone Screen (Bloods only) Borrelia Antibodies (Lyme Disease) BORR IgG, IgM Borrelia Antibodies (Lyme Disease) IgM BORM BORC Borrelia Confirmation (Immunoblot) Brazil Components ZZ4 Breast/Ovarian Cancer – BRCA1 + BRCA2 GENE CHANGE full screening + deletions/duplications Breast/Ovarian Cancer NGS Panel – GENE full sequencing across 39 genes + NEW deletions/duplications BRUC Brucella Confirmation Bupa Cromwell Hospital Screening Profiles CP1-CP12 CPEP C Peptide CRP C Reactive Protein HCRP C Reactive Protein (High Sensitivity) C1EI C1 Esterase Inhibitor C3 C3 Complement COMP C3/C4 Complement C4 C4 Complement C153 CA 15-3 C199 CA 19-9 SAMPLE REQS TAT B B A B 1 x 30mls (RU) B RU B B B B 14 B RU 14 B B RU B B 2x BC 4 A A 22,32 B B CU B 2 days 2 days 2 days 5 days 2 days 3 days 4 hrs 4 hrs 4 hrs 2 days 3 weeks 8 hrs 4 hrs 4 hrs 1 day 3 days 5 days 5 days + 4 hrs 2 days 4 hrs 4 hrs 4 hrs 53, 57 53, 57 25-26, 98 19 19, 119 19, 119 71 31 19 59 59 59 19 19 19 104 19 28 25 25 19, 31 19, 24 19, 24 B 9,14 2 days 53-54, 59 B B 9,14 B 2 days 10 days 3 days 53-54, 59 53 104 A A 9,11 3 weeks 71 A A 9,11 6 weeks 71 B 9 2-3 weeks B B B B B B B B B 3 days 4 hrs 4 hrs 5 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs Key: See page 15 for sample taking and special handling instructions. PAGE 53 16-17 31 19 19 53 53 53 53 71 71 123 Alphabetical test index TEST CA 50 CA 125 Cadmium Cadmium Calcitonin Calcium Calcium (24 hr Urine) Calcium/Creatinine Ratio Calprotectin Calprotectin/Elastase Profile Carbamazepine (Tegretol) Carbohydrate Deficient Transferrin (CDT) Carcino Embryonic Antigen Cardiac Enzymes (not chest pain) Cardiolipin Antibodies (IgG+IgM) CHANGE Cardiovascular Risk Profile 1 CHANGE Cardiovascular Risk Profile 2 Cashew Components Cat Components Catecholamines (Plasma) Catecholamines (Urine) Category 1 Category 2 Category 3 Category 4 Category 5 CCP Antibodies (RF) CD3/CD4/CD8 CD5 T+B Cells CD16 CD19 B Cells CD20 CD25 CD56 CD69/CD16/CD56 (NK Cells) Celery Components Centromere Autoantibodies Ceruloplasmin CH50 (Classical pathway) Chest Pain Profile Chlamydia (PCR swab) Chlamydia (Thin Prep) Chlamydia (Urine) 124 CODE CA50 C125 CADM URCD CATO CA UCA CACR CALP CEP CARB CDT CEA CENZ ACAB PP10 PP11 ZZ35 ZZ5 CATE UCAT CAT1 CAT2 CAT3 CAT4 CAT5 CCP LYSS CD5 CD16 CD19 CD20 CD25 CD56 CD69 ZZ6 CAB CERU CH50 CPP SPCR TPCR CPCR SAMPLE REQS TAT B B A or H RU 30 B (Frozen) 4 B PU RU B RF RF B B 4 B B B B B B B B C 34 B B A A (Plasma Frozen) 4 PU1 Single small Small medium Medium Large Large complex B A 10/Chex A 4 A 4 A 4 A 10/Chex A 10/Chex A 4 H 5,34 B B B B (Frozen) 4 B PCR TPV FCRU 5 days 4 hrs 5 days 5 days 1 day 4 hrs 4 hrs 4 hrs 5 days 5 days 4 hrs 3 days 4 hrs 4 hrs 2 days 3 days 3 days 3 days 3 days 5 days 5 days from 3-5 days from 3-5 days from 3-5 days from 3-5 days from 3-5 days 2 days 1 day 1 day 1 day 1 day 2 days 2 days 1 day 2 days 3 days 2 days 1 day 4 days STAT 2 days 5 days 2 days Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. PAGE 71 71 19, 118 19, 118 31 19 19 19 53 53, 57 96 20 71 20 53 17, 20, 24 17, 20, 24 104 104 31 31 115 115 115 115 115 53 25-26 25 25 25 25 25 25 25 104 53 20, 98 53 20, 24 28, 45 28, 45, 111 28, 45 Alphabetical test index TEST CODE Chlamydia Species Specific Ab Screen Chlamydia trachomatis by PCR (Semen) Chlamydia (Thin Prep) Chlamydia/Gonorrhoea (PCR Swab) Chlamydia/Gonorrhoea (Rectal) Chlamydia/Gonorrhoea (Thin Prep) Chlamydia/Gonorrhoea (Throat) Chlamydia/Gonorrhoea (Urine) Chloride Cholesterol Cholesterol (Familial Hypercholesterolaemia) Cholinesterase (Blood) Cholinesterase (Serum/Pseudo) Chromium (Blood) Chromium (Urine) Chromosome Analysis (Blood) Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY Chronic Fatigue Syndrome Profile Citrate (Urine) CK (MB Fraction) Clobazam Clomipramine (Anafranil) Clonazepam Clostridium Difficile Toxin Coagulation Profile 1 Coagulation Profile 2 Cobalt (Blood) Cobalt (Serum) Cobalt (Urine) Coeliac Disease – HLA DQ2/DQ8 Genotype Coeliac Disease Profile 3 Coeliac/Gluten Profile 2 Coeliac/Gluten Profile 3 Coeliac/Gluten Sensitivity Profile Coombs (Direct Antiglobulin Test) (Handwritten tube label) Copper (Serum) Copper (Urine) Cortisol Cortisol (Urine) Cotinine (Serum) Cotinine (Urine) CHAB UPCR TPCR SCG RSCG TCG TSCG CCG CL CHO SAMPLE REQS TAT B Semen TPV PCR PCR TPV PCR FCRU B B 2 days 5 days 5 days 2 days 2 days 5 days 2 days 2 days 4 hrs 4 hrs PAGE 53, 57 28 28, 111 45 45 45, 111 45 45 20 20 83 CHRC CHPS CHRO URCR KARY H B A RU 30 H9 YDEL A VIP1 UCIT CKMB CLOB CHLO CLON CLOS CLPF CLOT COB COBB COBA Q2Q8 GSA3 GSA2 GSA3 GSA A or Chex + B CU (Frozen) B A A A RF* C 18 A C 18 A B RU 30 A9 A B A B A B B 5 days 3 days 5 days 5 days 5-15 days 9 10 20, 119 20, 119 20, 118 20, 119 81 5 days 81 5 days 5 days 4 hrs 5 days 7 days 7 days 2 days 4 hrs 4 hrs 5 days 5 days 5 days 10 days 10 days 10 days 10 days 2 days 53, 57 20 20 96 96 96 28 25, 27 25, 27 20 20, 118 20, 119 56 53-54, 56 53-54, 56 53-54, 56 53, 56 COOM A 22,33 2 days 25 COPP URCU CORT UCOR COT COTT B CU B CU B RU 5 days 5 days 4 hrs 5 days 2 days 2 days 20, 98, 118 20, 119 31 31 53 53 Key: See page 15 for sample taking and special handling instructions. 125 Alphabetical test index 126 TEST CODE SAMPLE REQS TAT Cow’s Milk Components Creatine Kinase (CK, CPK) Creatinine Creatinine (Urine) Creatinine Clearance Crosslaps (Serum DPD) Cryoglobulins Cryptococcal Antigen Cryptosporidium Cryptosporidium Antigen Detection CSF – Viral PCR CSF for Microscopy and Culture Cyclosporin (Monoclonal) Cyfra 21-1 Cystic Fibrosis – 139 common mutations Cytomegalovirus (IgG/IgM) Antibodies Cytomegalovirus (PCR) Cytomegalovirus Avidity Cytomegalovirus DNA (PCR) Cytomegalovirus IgM D-Dimers Dengue Virus Serology Deoxypyridinoline (DPD) – Serum Deoxypyridinoline (DPD) – Urine DHEA DHEA Sulphate Diabetic Profile 1 Diabetic Profile 2 Diazepam (Valium) Digoxin Dihydrotestosterone Direct Antiglobulin Test (Coombs) (Handwritten tube label) DNA (Double Stranded) Antibodies DNA (Single Stranded) Antibodies DNA Extraction & Storage – 3 years (longer upon request) Dog Components Down Syndrome Risk Bloods only (Risk to be calculated by clinician) Down Syndrome Risk Profile (2nd trimester) Quad Down Syndrome Risk Profile with risk calculation first trimester ZZ7 CKNA CREA UCR CRCL SDPD CRYO CRYC CRPO CRPA VPCR CSF CYCL CY21 CFS CMV CMVU CMAV CMVP CMVM DDIT DENG SDPD DPD DHEX DHEA DIAB DIA2 DIAZ DIGO DHT B B B CU B CU B J 6 Serum or CSF RF RF CSF CSF A B A 9 B RU B A B C 4 B 9,14 B EMU B B A G A G RU A B B B 3 days 4 hrs 4 hrs 4 hrs 4 hrs 4 days 10 days 1 day 2 days 1 day 5 days 2-3 days 1 day 4 days 5 days 4 hrs 5 days 10 days 5 days 4 hrs 1 day 5 days 4 days 4 days 7-10 days 4 hrs 8 hrs 2 days 7 days 4 hrs 7 days COOM A 22,33 2 days 25 DNAA DNAS B B 2 days 5 days 53 53 XDNA A 9,11 10 days 82 ZZ8 HCGF/ PAPA B 3 days 104 B 4 hrs 31 DRP B,DRP form 7,8 2 days 31 DRP B,DRP form + image of scan 7,8 2 days 31 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. PAGE 104 20 20 20 20 20 53 28 28 59 69 28 20 71 82 68 68 68 68, 70 68 25 59 20 20 31 31 20, 24 20, 24 96 96 31 Alphabetical test index TEST CODE SAMPLE REQS TAT Doxepin Level (Sinequan) Drugs of Abuse Profiles DOXE A 10 days DVT/Pre-travel Screen DVT1 A A B 9 5 days Early CDT-Lung Early Detection Screen (10 days post exposure) Early Detection Screen with Syphilis ECG Echinococcus (Hydatid) Antibodies Eczema Provoking Profile Egg Components Elastase (Faecal) Elastase / Calprotectin Profile Electrolytes Electrolytes (Urine) ELF/Enhanced Liver Fibrosis Endomysial Antibodies (IgA) Endothelial Nitric Oxide Synthase (eNOS) 8-786C mutation Endothelial Nitric Oxide Synthase (eNOS) G894T (Glu294Asp) mutation Enteric Organism Rapid Detection Enterovirus by PCR Enterovirus Screen Epanutin (Phenytoin) Epstein-Barr Virus (EBV-DNA) Epstein-Barr Virus Antibodies IgG/IgM Erectile Dysfunction Profile Erythropoietin ESR Essential Fatty Acid Profile (Red Cell) Ethosuximide Extractable Nuclear Antibodies (nRNP, Sm, Ro ,La, Jo1, Scl70) Eye Swabs – Viral PCR Factor II Prothrombin Gene Factor V Leiden Factor VII Assay Factor VIII Assay Factor IX Assay Factor X Assay Factor XI Assay Factor XII Assay Factor XIII Assay CDTL B 7 days STDX A 10mls or 2 x 4mls 3 days STXX ECG EFAT ALEC ZZ9 ELAS CEP ELEC UELE ELF AEAB B A 10mls or 2 x 4mls X B 9,14 B B RF RF B CU B B 3 days 2 days 2 days 2 days 3 days 5 days 5 days 4 hrs 4 hrs 6 days 2 days 96, 119 117 25, 27, 56, 59-60 71 45, 51, 62, 66, 70 45, 51 95 53, 59 101 104 53 53, 57 20 20, 22 20-21 53 18RF A A A 2 weeks 33 19RF A A A 2 weeks 33 EORD ENPC ENTO PHEN EBVQ EBVA IMPO ERY ESR EFAR ETHO RF A/RF/PCR B B A B A B B G B A A A 4 A 2 days 5 days 2 days 4 hrs 7 days 2 days 3 days 4 days 4 hrs 5-7 days 7 days 59-60 70 68-69 96 70 68 31, 34 25, 96 25 98 96 ENA B 2 days 53 VPE FX2 FX5 FAC7 FAC8 F1X FX FX1 FX11 FA13 PCR A 9 A 9 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen) 9,18 C (Frozen)9,18 C (Frozen)9,18 C (Frozen)9,18 4 days 5 days 5 days 5 days 5 days 5 days 5 days 5 days 5 days 5 days 69 25 25 25 25 25 25 25 25 25 Key: See page 15 for sample taking and special handling instructions. PAGE 127 Alphabetical test index TEST CODE SAMPLE REQS TAT PAGE Faecal Elastase Faecal Fat (1 Day Collection) Faecal Occult Blood/FOB (immunochemical/FIT) Faecal Urobilinogen Familial Hypercholesterolaemia – comprehensive LDLR + APOB + PCSK9 + LDLRAP1 sequencing FASTest Sexual Health Screening Tests Female Hormone Profile Ferritin Fibrinogen Fibrotest (Liver Fibrosis) Filaria (Lymphatic and Non-Lymphatic) Antibodies Filaria Antigen ELAS TFFA RF LF 6 5 days 5 days 53 20 FOB RF 1 day 28 FURO RF 5 days 20 GENE A A 9 4 weeks 83 FIP FERR FIB FIBT B B C 4,18 B 4 hrs 4 hrs 4 hrs 2 weeks 48-49 31, 34 20 25 20-21 FIFA B 9,14 10 days 59 A A 4 days 59 31, 35 First Trimester Antenatal Screen Fish Components FK506 (Tacrolimus/Prograf) Flecainide (Tambocor) Fluid Culture Fluid Cytology Fluid for Crystals Fluoxetine (Prozac) Folate (Red Cell) Folate (Serum) Food Handler Screen 1 Food Handler Screen 2 Food Handler Screen 3 Food Microbiology Fragile X Syndrome screen – FMR1 repeat analysis PCR (3 weeks) + Southern Blot (8 weeks) if required Free T3 Free T4 Fructosamine FSH FTA (IgG) Full Blood Count Fungal ID + Sens G6PD Gabapentin Gall Stone Analysis Gamma GT 128 FIAG HCGF/ PAPA ZZ10 FK5 FLEC FLUD CATF FLU2 PROZ RBCF FOLA OFH1 OFH2 OFH3 FOOD B 4 hrs B A 4 A SC Fluid 4 SC A 4 A B B RF, STM A B G RF, STM A B B G RF,2x STM Submit sample 3 days 1-2 days 5 days 2-7 days 3 days 1 day 5 days 2 days 1 day 2 days 2 days 2 days 10 days GENE A A A 9 3-8 weeks 83 FT3 FT4 FRUC FSH FTA FBC FUID G6PD GABA RSTA GGT B B B B B A Fungal sample/STM A B 4 STONE B 4 hrs 4 hrs 3 days 4 hrs 2 days 4 hrs 14 days 5 days 5 days 10 days 4 hrs 31 31 20 31 53 25 28 26 96 20 20 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. 104 96 96 28 115 28 96 25, 98 25, 98 119-120 119-120 119-120 28, 119 Alphabetical test index TEST CODE SAMPLE REQS TAT Ganglioside GM1, GD1B, GQ1B Abs Gardnerella vaginalis by PCR Gastric Parietal Autoantibodies GENETIC TESTS Gentamicin Assay Giardia Antigen (Fresh Stool) Gliadin Antibodies (IgA + IgG) Globulin Glomerular Basement Membrane Abs Glucose Glucose Tolerance (2 hrs) Glucose Tolerance + Insulin Glucose Tolerance Test Glucose Tolerance Test (Extended) Glucose Tolerance Test (Short) Gluten Sensitivity Evaluation Gluten/Coeliac Profile 2 Gluten/Coeliac Profile 3 Glycan Determinants Glycosylated HB Gonorrhoea (Culture) Gonorrhoea (PCR swab) Gonorrhoea (Thin Prep) Gonorrhoea (Urine) Group B Strep Growth Hormone (Fasting) H. pylori Antibodies (IgG) H. pylori Antigen (QUICK Breath Test) H. pylori Antigen (Stool) H1N1 (Swine Flu) Haematology Profile Haemochromatosis – HFE common mutations C282Y+H63D Haemoglobin Haemoglobin Electrophoresis Haemophilus Influenzae B Antibodies GANG GVPC GASP B FCRU / PCR / TPV B 5 days 5 days 2 days GENT GIAG AGAB GLOB AGBM RBG GTTS GTTI GTT GTTE GTT3 GSA GSA2 GSA3 ZZ27 GHB GONN SGON TGON CGON GBS GH HBPA HBQT HBAG H1N1 PP3 B 4 RF 9,14 B B B G G G 2x RU X G G G G G 5x RU(X) G G G G G G 6x RU(X) G G G 3x RU(X) B A B A B B A STM PCR TPV FCRU 2x STM B 7,35 B J (Blowbag kit) 1 RF 2x PCR A 4 hrs 2 days 2 days 4 hrs 2 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 2 days 10 days 10 days 3 days 6 hrs 2-3 days 2 days 5 days 2 days 3 days 4 hrs 2 days 2 days 3 days 1 day 4 hrs 54 45, 111 54 75 95 54, 59 54 20 54 20 95 95 95 95 95 54 53-54, 56 53-54, 56 104 20 28, 45 45 45, 111 45 28 31 54 54, 95 54 70 16, 26-27 HMD A 9 3 days 21, 26, 83 HB HBEL HINF 4 hrs 4 days 7 days 26 26 61 Hair Mineral Analysis HMA A A B 2g (2 tbsp) of hair close to scalp 10 days 98 Harmony™ Prenatal Test (Non-Invasive Prenatal Testing) – common aneuploidy screening from maternal blood Hazelnut Components HbA1c HDL Cholesterol HE4 + ROMA PAGE NIPT J/Special tubes 1 up to 10 days 83 ZZ11 GHB HDL HE4 B A B B 3 days 6 hrs 4 hrs 1 day 104 21 21 71 Key: See page 15 for sample taking and special handling instructions. 129 Alphabetical test index 130 TEST CODE SAMPLE REQS TAT Hepatitis (Acute) Screen Hepatitis A (IgM) Hepatitis A Immunity (IgG) Hepatitis A Profile Hepatitis A, B & C Profile Hepatitis B ‘e’ Antigen and Antibody Hepatitis B (PCR) Genotype Hepatitis B Core Antibody – IgM Hepatitis B Core Antibody – Total Hepatitis B DNA (Viral load) Hepatitis B Immunity Hepatitis B Profile Hepatitis B Resistant Mutation Hepatitis B sAg Hepatitis C Abs Confirmation (RIBA) Hepatitis C Antibodies Hepatitis C Antigen (Early detection) Hepatitis C Genotype Hepatitis C Quantification (Viral Load) Hepatitis Delta Antibody Hepatitis Delta Antigen Hepatitis Delta RNA Hepatitis E IgG/IgM Hepatitis G (PCR) Herpes I/II Antibody Profile (IgG) Herpes Simplex I/II by PCR Herpes Simplex I/II by PCR (Swab) Herpes Simplex I/II from symptomatic lesion Herpes Simplex I/II IgM HFE gene (Haemochromatosis) – common mutations C282Y + H63D Hirsutism Profile Histamine Releasing Urticaria Test HIV 1 & 2/p24Ag HIV 1 Quantitation (viral load by PCR) HIV 2 Quantitation (viral load by PCR) HIV Confirmation of Positive Screens (Using 3 methodologies) HIV Drug Resistance Genotyping HIV Screening: HIV1&2 Abs/p24 Ag HIV/HBV/HCV (Early detection by PCR) HIV/HBV/HCV (Early detection by PCR) with Syphilis AHSC HAVM HAIM HEPA ABC HEPE BGEN HBCM HBC DNAB HBIM HEPB HBRM AUAG RIBA HEPC HCAG CGEN QPCR HEPD HDAG DRNA HBE HEPG HERP HERD HERS B B B B B B A B B A B B A or B B B B B A A B B A (Frozen plasma) B A (Frozen plasma) B FCRU / PCR/ TPV PCR 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 7 days 4 hrs 4 hrs 5 days 4 hrs 4 hrs 7 days 4 hrs 5 days 4 hrs 4 hrs 5 days 5 days 5 days 5 days 5 days 5 days 2 weeks 2 days 5 days 5 days 53, 62 62 61-62 45, 62 62 62 62 62 62 62, 70 61-62 62 62 45, 62 62 45, 62 45, 62 62 62, 70 62 62 62 62 62 68 45, 68, 111 45, 68 PAGE HERS PCR 5 days 69 HERM B 2 days 68 HMD A 9 3 days 21, 26, 83 HIRP CURT HDUO IDSQ HIV2 B B B A A 4 hrs 10-14 days 4 hrs 5 days 5 days 31, 35 54-55, 101 45, 66 66, 70 66 HIVC B 1 day 66 HIVD HDUO STDX A B A 10mls or 2 x 4mls 7 days 4 hrs 3 days 66 45, 66 45, 51, 62, 66, 70 STXX B A 10mls or 2 x 4mls 3 days 45 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Alphabetical test index TEST CODE SAMPLE REQS TAT HLA DR Antigens HLA DQ Alpha Antigens HLA DQ Beta Antigens Homocysteine (Quantitative) House Dust Mite Components HPV (individual low & high risk DNA subtypes) HPV (DNA and reflexed mRNA) by PCR HPV (HR DNA type 16, 18 + others) HPV DNA types 16, 18 + collective reporting of 12 other High Risk DNA subtypes HPV DNA types 16, 18 + all other High Risk DNA subtypes HPV mRNA only HPV Typed DNA HRT Profile 1 HRT Profile 2 HTLV 1&2 Abs. (Human T Lymphotropic Virus Type I-II) Hughes Syndrome Human Herpes Virus – 6 (IgG/IgM) Ab Human Herpes Virus – 8 (IgG) HVS (inc. Mycoplasma + Ureaplasma) 9RF 10RF 11RF HOMO ZZ12 A A A A A A B 17 B 2 weeks 2 weeks 2 weeks 1 day 3 days 33 33 33 21, 26 104 HP20 PCR/TPV 5 days 45, 70 HPVT HPV TPV TPV 5 days 2 days 45, 70 45, 70, 114 HPV TPV 2 days 114 HPV TPV 2 days 45, 70, 114 HPVR HP20 HRT HRT2 TPV TPV/PCR B B G 3 days 5 days 4 hrs 4 hrs 114 114 31, 35 31, 35 HTLV B 8 hrs 66 LUPA HSV6 HHV8 HVS IgE (Total) IGE IGF-1 (Somatomedin) IGF-BP3 IgG Subclasses Imipramine Immunoglobulin A SOMA IGF3 IGSC IMIP IGA Immunoglobulin E – Total IGE Immunoglobulin G Immunoglobulin M Immunoglobulins (IgG, IgM, IgA) Impotence Profile Influenza Screen Inhibin B INR Insect/Worm/Ova/Cysts Insulin Insulin Antibodies Insulin Resistance (Fasting) Interleukin 1 Beta IGG IGM IMM IMPO INFL INIB PTIM FLEA INSU INAB FIRI ILB B C 4,18 B B STM 2 days 2 days 10 days 2-3 days B 1 day B (Frozen) 4 B (Frozen) 4 B A 4 B 1 day 5 days 4 days 4 days 4 hrs B 1 day B B B A B B G B B (Day 3 of cycle,frozen) C 18 Send Specimen 9,14 B B B G B (frozen) 4,7 4 hrs 4 hrs 4 hrs 3 days 2 days 5 days 4 hrs 5 days 4 hrs 5 days 4 hrs 1-2 weeks Key: See page 15 for sample taking and special handling instructions. PAGE 26 68-70 68 28 21-22, 54-55, 101 31-32 31 21 96 21 21-22, 54-55, 101 21 21 21, 54 31 54 31 26 59 31 54 31 54 131 Alphabetical test index 132 TEST CODE SAMPLE REQS TAT Interleukin 2 Interleukin 4 Interleukin 6 Interleukin 8 Interleukin 10 Intrinsic Factor Antibodies Iron Iron Binding Capacity Iron Overload Profile Iron Status Profile ISAC Panel Islet Cell Antibodies IUCD for Culture JAK 2 – V617F common mutation Jewish Carrier Screen KIR (Killer-like Immunoglobulin-like Receptors) Genotyping Kiwi Components Lactate (Plasma) Lactate Dehydrogenase (LDH) Lactose Tolerance Test Lamotrigine Latex Components Lead (Blood) Lead Lead Profile (Hb, ZPP, Lead) Legionella Antibodies Legionella Urine Antigen Leishmania Antibodies Leishmania Blood Film Leucocyte Antibody Detection MALE Leucocyte Antibody Detection FEMALE Levetiracetam (Keppra) Lipase Lipid Profile Lipid Transfer Proteins Lipocalins Lipoprotein (a) Lithium (take 12 hrs after dose) Liver Fibrosis (Enhanced Liver Fibrosis ELF) Liver Fibrosis Fibrotest Liver Function Tests Liver Kidney Microsomal Antibodies IL2 IL4 IL6 IL8 IL10 IFAB FE TIBC IOP ISP ISAC ICAB IUCD JAK2 GENE B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B (frozen) 4,7 B B B A A B 9 B B B Send Device A 9 A 9 1-2 weeks 1-2 weeks 1-2 weeks 1-2 weeks 1-2 weeks 2 days 4 hrs 4 hrs 3 days 4 hrs 3 days 2 days 10 days 17RF A A A 2-3 weeks 33 ZZ32 LACT LDH LTT LAMO ZZ13 LEAD URPB LEAZ LEGO LEGA LEIS LEIF 7RF 8RF LEVE LIPA LIPP ZZ23 ZZ28 LPOA LITH B G 16 B J 1 B 4 B A RU A 13 B RU B A H H H 3,4,6 B 3,4,6 B 4 B B B B B B 3 days 1 day 4 hrs 8 hrs 5 days 3 days 5 days 5 days 3-5 days 2 days 1 day 2 days 8 hrs 1 week 1 week 3 days 4 hrs 4 hrs 3 days 3 days 4 hrs 4 hrs 104 21 21 95 96 104 21, 118 21, 119 118 54 28, 54 59 26 33 33 96 21 21, 23 104 104 21 21, 96 ELF B 6 days 20-21 FIBT LFT LKM B B B 2 weeks 4 hrs 2 days 20-21 21, 23 54 10 days 4 weeks Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. PAGE 54 54 54 54 54 54 21 21 21, 23, 93 21, 23 101 54 28 84 93 Alphabetical test index TEST Lorazepam NEW Lp-PLA2 (PLAC) Test Lupus Anticoagulant and Anticardiolipin Abs Lupus Anticoagulant only Luteinising Hormone (LH) Lyme Disease (Borrelia Abs) IgG, IgM Lyme Disease (Borrelia Abs) IgM Lymphocyte Immunophenotyping (Leukaemia) Lymphocyte Subsets (CD3/CD4/CD8) Macroprolactin Magnesium (Blood) Magnesium Magnesium (Urine) Malarial Antibodies (Pl. falciparum) Malarial Parasites Male Genetic Reproductive Profile Male Hormone Profile Male Recurrent Miscarriage Profile Manganese (Serum) Measles Antibodies (IgG) Immunity Measles Antibodies (IgM) Measles, Mumps, Rubella (MMR) Meningococcal Abs Menopause Profile Mercury (Blood) Mercury Metabolic Syndrome Profile Metanephrines (Plasma) Metanephrines (Urine) Methaqualone Methotrexate Metronidazole Level Microalbumin (Urine) Microfilaria Blood Film Mineral Screen Mineral Screen – Whole blood Mineral Screen and Rbc Industrial Heavy Metal Screen (Trace Metals) Miscarriage/Thrombotic Risk Profile Mitochondrial Antibodies MRSA (Rapid PCR) one swab per site MRSA Culture one swab per site CODE LORA PLA2 SAMPLE REQS TAT A 4 B 10 days 2 days PAGE 96 21-22 LUPA B C 4,18 2 days 26, 54 LUPC LH BORR BORM C C B B 9,14 B 2 days 4 hrs 2 days 2 days 26 31 53-54, 59 53-54, 59 LYPT A 4,5 5 days 26 18 LYSS PRLD RCMG MG URMG MALA MALP GRP MIPR MRMP MANG MEAS MEAM MMR MENI MENO MERC URHG METS PMET UMEX METQ METX METR UMA MICF MINE RMIN A 10/Chex B A or H B PU B 9,14 A 4,9,14 A H 9 B Semen B B B 9 B B B A or H RU 1 A B B G A (Frozen plasma) PU 1 RU B B 4 RU A B K H H 2 days 4 days 4 days 4 hrs 1 day 2 days STAT 15 days 4 hrs 15 days 5 days 1 day 2 days 1 day 2-4 weeks 4 hrs 5 days 5 days 9 days 7 days 5 days 5 days 2 days 7 days 4 hrs STAT 5 days 5 days 25-26 31 98 21, 118 21, 119 59 26 43, 93 31, 34, 43 43 21, 118 61, 68 61, 68 61 54 32, 35 21, 118 21, 119 32, 35 32 32 21 96 95 21 26 97-98 97-98 TRAC B H K 7-10 days 98, 118 PROP AMIT MRSA MRSW A A B C C C B Blue Micro Swab Blue Micro Swab 18 Key: See page 15 for sample taking and special handling instructions. 5 days 2 days 4 hrs 2 days 26-27, 93 54 28, 70 28 133 Alphabetical test index TEST CODE SAMPLE REQS TAT PAGE MTHFR – common C677T mutation MTHFR – common C677T + A1298C mutations Mumps Antibodies (IgG) Mumps Antibodies (IgM) Mycobacterium tuberculosis – DNA Mycology/Skin Scrapings Mycoplasma genitalium by PCR Mycoplasma pneumoniae IgM and IgG Mycoplasma/Ureaplasma Culture Myeloma Screen Myeloperoxidase Antibodies Myoglobin (Serum) Myositis Panel Mysoline (Primidone) N. Gonorrhoea Nail Clippings Natural Killer Profile Needle Stick Injury Profile MTHF A 9 5 days 85 GENE A 3 weeks 85 B B A Submit Sample FCRU / PCR / TPV B RU,Swab A B G RU B B B B 4 TPV Nail clippings A A H 10 B B 1 day 1 day 5 days 3-4 weeks 5 days 2 days 2-3 days 3 days 2 days 4 hrs 5 days 3 days 5 days 3-4 weeks 2 days 4 hrs TPV/PCR 5 days B B B B B RU 2 days 5 days 5 days 5 days 5 days Send Mon-Thurs only Send Mon-Thurs only 1 week 2 weeks 1 week 1 week Send Mon-Thurs only Send Mon-Thurs only MUMP MUMM TBPC SKSC MGEN MYCO MYCS MYEL MPO SMYO MYOS PRIM TGON SKSC NK1 NSI TGON/ Neisseria Gonorrhoea – DNA SGON NVIR Neurological Viral Screen Neuronal Antibody (Hu, Ri, Yo, Cv2, Ma2) NEUR NSE Neurone Specific Enolase NICK Nickel (Serum) Nickel NICU 61 61, 68 70 28 45, 70, 111 68 28-29 21, 23 54 21 54 96 45, 111 28 26-27 119-120 70 68-69 54 71 21, 118 21, 119 NK (CD69) cell Assay CD69 H 5,34 NK (CD69) and NK Cytotoxicity 69C HHH 5,34 NK Assay/Cytotoxicity Panel NK Assay Endometrial Biopsy (tissue) NK Assay Follow-Up Panel NK Assay Panel + Intralipids 4RF 15RF 5RF 16RF H H H Tissue H H H H H H NK Cytotoxicity Assay HSNK HHH 5,34 NKCY HHH 5,34 69CI HHH 5,34 Send Mon-Thurs only 33 NIPT J/Special tubes 1 up to 10 days 86 DNA OEST B B 2 days 4 hrs 54 32 NK Cytotoxicity w. suppression, steroid, IVIg & Intralipin NK Cytotoxicity with suppression with steroid, IVIg and intralipin, and NK (CD69) cell assay Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood Nucleic Acid Antigen Antibodies Oestradiol (E2) 134 9 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. 33 33 33 33 33 33 33 33 Alphabetical test index TEST Oestriol (Estriol) Oestrone Olanzapine Oligoclonal Bands Olive Components Omega 3/Omega 6 Osmolality (Serum) Osmolality (Urine) Osteocalcin Osteoporosis Screen Ovarian Autoantibodies Oxalate (Urine) Oxidative Stress in Semen (ROS) PAI1 4G/5G Polymorphism PAP – Thin Prep (Cervical Cytology) Paracetamol Parathyroid Hormone (Whole) Parvalbumins Parvovirus Antibodies (IgM) Parvovirus IgG Antibodies Parvovirus IgG/IgM Abs Paternity Testing (postnatal and prenatal) – sample required from each person being tested (3 people) Paul Bunnell (Monospot) PCA3 (Molecular test for the detection of prostate cancer from urine) Peach Components Peanut Components Pemphigus/Pemphigoid Autoantibodies Pertussis (Whooping Cough) Antibodies Pertussis by PCR Pethidine – Urine Phencyclidine (PCP) Phenobarbitone Phenytoin (Epanutin) Phosphate Phosphate (24 hr Urine) Phospholipid Antibodies Pituitary Function Profile NEW PLAC Test (Lp-PLA2) Plasma Viscosity Platelet Count Pleural Fluid for Culture CODE SAMPLE REQS TAT E3 E1 OLAN CSFO ZZ14 OMG3 OSMO ROSM OST OPS OVAB UOXA SROS PAIP PAPT PARA PTHI ZZ29 PARV PARG PARP B B B B A 4 CSF+B B A 4 B RU B (Frozen) 4 B B B PU Semen 1 A TPV B B 4 B B B B 4 days 4 days 5 days 5 days 3 days 4 days 1 day 1 day 4 days 4 days 2 days 5 days 1 day 10 days 2-3 days 4 hrs 1 day 3 days 2 days 2 days 2 days Contact Lab A/AF/CVS 9,11,12 5 days 86 A or B 8 hrs 26 7 days 71 3 days 3 days 2 days 5 days 5 days 4 weeks 5 days 4 hrs 4 hrs 4 hrs 4 hrs 2 days 1 day 2 days 3 days 4 hrs 2 days 104 104 54-55 61 70 119 22 96 96 22 22 54 32, 35 21-22 26 26 28 PAUL PCA3 ZZ15 ZZ16 SKAB PERS PERP UPET DUST PHB PHEN PHOS UPH PLIP PITF PLA2 VISC PLTS FLUP J 1,6 B B B B Throat swab PCR RU RU B B B PU B B B B A 4 A SC Key: See page 15 for sample taking and special handling instructions. PAGE 32 32 96 54 104 98-99 21 21 32, 71 21, 24 54 21 41 26 111 96 32 104 68 68 68 135 Alphabetical test index 136 TEST CODE SAMPLE REQS TAT Pneumococcal Antibody Screen Pneumococcal Antigen Pneumocystis Examination Pneumonia (Atypical) Screen Polcalcins Polio Virus 1, 2, 3 Antibodies Polycystic Ovary Syndrome Profile Porphyrin (Blood) Porphyrins (Faeces) Porphyrins Screen (Total: Urine, Stool, Blood) Porphyrins Screen (Urine) Post-Travel Screen 1 Post-Travel Screen 2 Potassium PR-10 Proteins PNEU PNAG PCYS APS ZZ25 POLO PCOP PORP FPOR B RU BAL* B B B 9 A B B B G 7 A 3 RF 3 7 days 1 day 1 day 2 days 3 days 5 days 5 days 15 days 15 days 54, 61 28 28 68-69 104 61 32, 35 22 22 PORS A RU, RF 3 15 days 22 RPOR PTS PTS2 K ZZ22 RU A A B G 14 A A B B B G 14 B B 15 days 10 days 10 days 4 hrs 3 days Pre-Travel Screen (DVT) DVT1 A A B 9 5 days Pregnancy (Serum) [Quantitative] Pregnancy Test (Urine) Pregnenolone Primidone (Mysoline) Procalcitonin Profilins Progesterone Proinsulin Prolactin Prolactin (Macro) Propanalol Propoxyphene Prostate Profile (Total & Free PSA) Prostate Specific Antigen (Total)* Protein (Urine) Protein C Protein Electrophoresis Protein S Free Ag Protein Total (Blood) Protein/Creatinine Ratio (Urine) Proteinase 3 Ab Prothrombin Time Prothrombin Time + Dose Q Fever (C Burnetti) Antibodies Rabies Antibody QHCG PREG PREN PRIM PCAL ZZ24 PROG PROI PROL PRLD PRO DPRO PR2 PSPA UPRT PRC PRTE FPRS PROT UCPR PR3 PTIM PT+D QFEV RABI B RU B B 4 B (Frozen) 4,7 B B B (Frozen) B B B 4 RU B B CU C (Frozen) 4,9,18 B C (Frozen) 4,9,18 B RU B C 18 C 18 B 9 B 4 hrs 4 hrs 5 days 3 days 1 day 3 days 4 hrs 5 days 4 hrs 4 days 7 days 5 days 4 hrs 4 hrs 4 hrs 3 days 2-4 days 3 days 4 hrs 4 hrs 2 days 4 hrs 4 hrs 3 days 10 days 22 59-60 59-60 22 104 25, 27, 56, 59-60 22, 32 22 32 96 22 104 32 32 32 32 96 22 71 71 22 26 22 26 22 22 54 26 26 68 61 3 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. PAGE Alphabetical test index TEST CODE Rapid Strep (incl. m/c/s) Recurrent Miscarriage Profile (Female) Renal Stone Analysis Renin Reproductive Immunophenotype Panel RAPS RMP RSTA RENI 3RF SAMPLE REQS TAT 2 days** 10-15 days 10 days 5 days 1 week RSV RESP ARAB RETC RTRO RT3 RF RH RH2 RH3 RH4 RH5 RH6 STM** A A B C C C H 9,18 STONE A (Frozen plasma) 36 H H H PCR or as specified B B B A Contact Lab B 7,37 B A B A A B B A B A B B A A B B B Respiratory Samples – Viral PCR VPR Respiratory Synctial Virus Respiratory Viral Screen Reticulin Antibodies (IgA) Reticulocyte Count Retrograde Ejaculation Reverse T3 Rheumatoid Factor (Latex Test) Rheumatology Profile 1 (Screen) Rheumatology Profile 2 (Connective tissue) Rheumatology Profile 3 (Rheumatoid/Basic) Rheumatology Profile 4 (Systemic Lupus) Rheumatology Profile 5 (Mono Arthritis) Rheumatology Profile 6 (Rheumatoid Plus) Rheumatology Profile 7 (Srogren’s syndrome) Rhinitis Provoking Profile Rickettsial Species Antibodies Risperidone Rotavirus in Stool Rubella Antibody (IgG) Rubella Antibody (IgM) Rubella Virus – RNA by PCR S100 Malignant Melanoma Salicylates Salivary Duct Antibodies Schistosoma (Urine) Schistosome (Bilharzia) Antibodies Schistosome Antigen Screening Profile 1 – Biochemistry Screening Profile 2 – Haematology/ Biochemistry Screening Profile 3 – Haematology Screening Profile 4 – Haematology/Biochemistry (Short) Screening Profile 5 – Haematology/Biochemistry (Postal) Screening Profile 6 – Well Person RH7 PAGE 28 93 22 32, 95 33 5 days 69 2 days 2 days 2 days 4 hrs 2 days 10 days 1 day 2 days 3 days 2 days 2 days 3 days 2 days 68 68-69 54 26 41 32 55 55, 58 55, 58 55, 58 55, 58 55, 58 55, 58 B 2 days 55, 58 B B A 4 RF B B A/Amniotic Fluid B B B Mid-morning terminal urine B 14 B B G 2 days 2 days 7 days 8 hrs 4 hrs 4 hrs 5 days 4 days 4 hrs 2 days 8 hrs 2 days 3 weeks 4 hrs 101 55, 59 96 28 61, 68 61, 68 61, 70 71 22 55 28 59 59 16 PP2 A B G 4 hrs 16 PP3 A 4 hrs 16, 26-27 PP4 A B G 4 hrs 16 PP5 A B G 4 hrs 16 PP6 A B G 4 hrs 16 ALRN RICK RISP ROTA RUBE RUBM RUBP S100 SALI SAB USCH BILH SHAG PP1 Key: See page 15 for sample taking and special handling instructions. 137 Alphabetical test index 138 TEST CODE SAMPLE REQS TAT PAGE Screening Profile 7 – Well Man Screening Profile 8 – Well Woman Screening Profile 9F – Senior Female Screening Profile 9M – Senior Male Screening Profile 10 – Cardiovascular Risk 1 Screening Profile 11 – Cardiovascular Risk 2 Screening Profile 12 – Sexual Health Screen Seed Storage Proteins Selenium (Blood) Selenium (Serum) Sellotape Test Semen Analysis Semen Analysis, Comprehensive Semen Analysis, Post-Vasectomy** Semen Analysis, Vasectomy Reversal Semen Culture Semen Fructose Semen Leucocytes Semen Parameters Serotonin Serum Albumins Sex Hormone Binding Globulin PP7 PP8 PP9F PP9M A B G A B G TPV A B B G RU RF 4 A B B G RU RF 4 4 hrs 4 hrs 2 days 2 days 16 17 17 17 PP10 B B 3 days 17, 20, 24 PP11 B B B C 34 3 days 17, 20, 24 PP12 FCRU/PCR/TPV/Semen 2 days ZZ26 SELR SELE SELL B A or H B Send Sample*** 3 days 4 days 4 days 1 day SPER PVAS SPER SPCU SPCF PMNS SPOD SERT ZZ30 SHBG Semen 1 Semen 1 Semen 1 Semen Semen Semen Semen 1 H (Frozen whole blood) 1 B B 2 days* 2 days 2 days* 2-3 days 2 days 2 days 1 day 10 days 3 days 4 hrs Sexual Health Screen PP12 FCRU/PCR/TPV/Semen 2 days Shigella Abs Shrimp Components Sickle Cells Silver (Blood) Silver (Urine) Sinequan (Doxepin) Sirolimus Sjrogren’s Syndrome Skin (Pemphigus/Pemphigoid) Autoantibodies Skin Scrapings/Mycology Skin/Mucosal Swab Smooth Muscle Antibodies Sodium Somatomedin (IGF-1) Soybean Components Specific Gravity (Urine) SHIG ZZ17 SICK SILV USIL DOXE SIRO RH7 B B A B RU A A B 5 days 3 days 4 days 5 days 5 days 10 days 3 days 2 days 45, 51, 70, 111 104 22, 98 22, 98 28 40 41 41 41 28, 41 41 41 41 32 104 32 45, 51, 70, 111 59 104 26 22, 118 22, 119 96, 119 96 55, 58 SKAB B 2 days 54-55 SKSC VPSK ASMO NA SOMA ZZ18 USG Send Sample PCR B B B (Frozen) 4 B RU 3-4 weeks 5 days 2 days 4 hrs 1 day 3 days 8 hrs 28 69 55 22 31-32 104 28 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Alphabetical test index TEST CODE SAMPLE REQS TAT Sperm Aneuploidy (FISH) Sperm Antibodies (Serum) Sperm Antibodies /MAR Test (Semen) Sperm DNA Fragmentation (SCSA) Sperm Morphology (Kruger strict criteria) Sports/Performance Profile Sputum for Routine Culture Sputum for TB Culture (AFB) Squamous Cell Carcinoma STD Profiles STD1-STD9 STD Quad Steroid Cell Antibody Stool for OCP and Culture Stool for OVA Cysts & Parasites Streptomycin Levels Striated/Skeletal Muscle Antibody Sulpiride Suppression with steroid, IVIg and intralipin, NK (CD69) cell assay, TH1/TH2 cytokines Swab for Culture (Any Site) Synacthen Stimulation Test Synovial Fluid (For Crystals) Syphilis by PCR (chancre) Syphilis IgG/IgM T3 T3 (Reverse) Tacrolimus/Prograf (FK506) Tay Sachs Screen – 5 common mutations TB (pleuralfluid) TB Culture TB Culture (Urine) TB Quantiferon®-TB Gold TB Slopes – Confirmation and Sensitivity Tegretol (Carbamazepine) Teicoplanin Assay Telomere Analysis Technology (Life Length) Temazepam Testicular Autoantibodies Testicular Tumour Profile Testosterone Testosterone (Free) Tetanus Screen SPPL ASAB ASPA SEXT MRPH SPOR SPU1 SPU2 SCC Semen 1 B Semen Semen 1 Semen 1 A A A B B B B G K 4 SC SC B 4-6 weeks 5 days 1 day 2-3 weeks 2 days 5 days 2-3 days up to 8 weeks 4 days STDQ SCA SPAR OCP STRM STRA SULP B FCRU B RF RF F B B 4 2 days 2-3 days 1 day 5 days 2 days 4 days NCIT HHH 5,34 SWAB SYNA FLU2 SYPS SERJ T3 RT3 FK5 GENE TBCU SPU2 TBUR TBQ TBSL CARB TEIC TSPA TEMA TAB TTP TEST FTES TETA STM X SC PCR B B B 7,37 A 4 A 9 SC SC 3x EMU J/special tubes 1 TB slope (LJ medium-green) 6 B B HHH B 4 B B B B B TH1/TH2 cytokine profile 1TH2 HHH 5,34 Key: See page 15 for sample taking and special handling instructions. Send Mon-Thurs only 2-3 days 4 hrs 1 day 5 days 4 hrs 4 hrs 10 days 1-2 days 3 weeks up to 8 weeks up to 8 weeks up to 8 weeks 3 days up to 8 weeks 4 hrs 5 days 4 weeks 4 days 2 days 4 hrs 4 hrs 3 days 5 days Send Mon-Thurs only PAGE 41 41, 55 41 41 41 97-98 28 28 71 50-51 51 55 29 29 96 55 96 33 29, 45 95 29 45 45, 55 32 32 96 87 29 29 29 55 29 96 95 97 96 55 71 32 32 61 33 139 Alphabetical test index 140 TEST CODE TH1/TH2 Cytokine Ratio Thalassaemia Screen Theophylline Thiopurine Methyl Transferase Thrombotic Risk Profile Thyroglobulin Abs Thyroglobulin Assay Thyroid Abs (incl. TGAB + TPEX) Thyroid Peroxidase Thyroid Peroxidase Antibodies/Anti TPO Thyroid Profile 1 Thyroid Profile 2 Thyroid Profile 3 Thyroxine (T4) Timothy Grass Components Tissue for culture Tissue Transglutaminase IgA (Coeliac) Tissue Transglutaminase IgG Tobramycin Assay Topiramate (Topamax) Torch Screen Total IgE Toxoplasma Antibodies (IgG+IgM) Trace Metal (Blood) Profile Transferrin Trichomonas vaginalis (Genital) Culture Trichomonas vaginalis by PCR Triglycerides Trimipramine Tropical Screen Tropomyosins Troponin T Tryptase TSH TSH-Receptor Antibodies Urate (Uric Acid) Urea Urea (Urine) Urea and Electrolytes Urea Electrolytes (Urine) Ureaplasma urealyticum Ureaplasma/Mycoplasma Culture Uric Acid (Serum) 6RF THSC THEO TPMT PROP TGAB TGA THAB TPEX TPEX TF TF2 TF3 T4 ZZ19 TISS TAA TAAG TOBR TOPI TORC IGE TFAM TRAC TRAN TVAG TVPC TRI TRIM TROP ZZ31 TROT STRY TSH TSI UA UREA UURE U/E UELE UGEN MYCS UA SAMPLE REQS TAT H H H 5 A B A 5 A A B C C C 18 B B B B B B B B B B Tissue sample B B B B 4 B B B 9 B H K B Blue Micro Swab FCRU / PCR / TPV B A B B 9,14 B B B B B B B CU B CU FCRU / PCR / TPV RU,Swab B 1 week 4 days 4 hrs 5 days 5 days 1 day 1 day 1 day 1 day 1 day 4 hrs 2 days 4 hrs 4 hrs 3 days up to 7 days 2 days 5 days 3 days 4 days 2 days 1 day 4 hrs 7-10 days 1 day 2 days 5 days 4 hrs 5 days 10 days 3 days 4 hrs 5 days 4 hrs 4 days 4 hrs 4 hrs 4 hrs 4 hrs 4 hrs 5 days 2-3 days 4 hrs PAGE 33 26 96 22 26-27, 93 32 32 32, 55 32 55 32, 34 32, 34 32, 34 32 104 29 55 55 95 96 55, 68-69 21-22, 54-55, 101 59, 68 118 22 45 45, 111 22 96 59-60 104 22 22 32 32, 55 22 22 22 22-23 20, 22 45, 70, 111 28-29 22 Ensure all specimens and forms are labelled with given Full Name, Surname, DOB, Date and Time of collection. Turnaround times are quoted as working days. Alphabetical test index TEST CODE SAMPLE REQS TAT PAGE Uric Acid (Urine) Urine (Microscopy Only) Urine Cytology (Urine cytology containers available from TDL Supplies) Urine for Microscopy and Culture Urobilinogen (Urine) Urticaria Test (Histamine Releasing) Valium (Diazepam) Valproic Acid (Epilim) Vancomycin Hydrochloride Varicella zoster Antibodies (IgG) Varicella zoster Antibodies (IgM) VDRL (RPR) Venom Components Vigabatrin (Sabril) Viral Antibody Screen Viscosity (Plasma) Vitamin A (Retinol) Vitamin B Profile Vitamin B1 (Thiamine) Vitamin B12 (Active) Vitamin B12 (Active) / Red Cell Folate Vitamin B2 (Riboflavin) Vitamin B3 (Nicotinamide) Vitamin B6 (Pyridoxine) Vitamin B9 (Folic acid) – Red cell Vitamin B9 (Folic acid) – Serum Vitamin C (Active) Vitamin D (1, 25 Dihydroxy) Vitamin D (25-OH) Vitamin E (Alpha Tocopherol) Vitamin Profile 1 Vitamin Profile 2 VMA Von Willebrand Profile Wall Pellitory Components Walnut Components Wheat Components Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY Zinc (Blood) Zinc (Serum/Plasma) Zinc (Urine) UURI UMIC CU RU 4 hrs 1 day 22 29 URCY Urine 21 2 days 115 UCEM UURO CURT DIAZ VALP VANC VZOS VZOM VDRL ZZ33 VIGA VIRA VISC VITA VBP VIT1 B12 B12F VIB2 VIB3 VITB RBCF FOLA VITC D3 VITD VITE VITS VIT2 UVMA FVWF ZZ20 ZZ34 ZZ21 RU RU B A B B B B B B A B B A 4 B A A B 13 A 13 B A B A 13 B A 13 A B B (Frozen) 7 B (Frozen) B B A B B 7,13 A A A B B 7,13 PU 1 C (Frozen) 4,12 B B B 1-2 days 1 day 10-14 days 7 days 4 hrs 4 hrs 1 day 2 days 2 days 3 days 10 days 2 days 3 days 5 days 5 days 5 days 1 day 2 days 5 days 5 days 5 days 2 days 1 day 5 days 5-8 days 4 hrs 5 days 5 days 5 days 5 days 5 days 3 days 3 days 3 days YDEL A 9 5 days 88 RBCZ ZINC URZN A or H K CU 5 days 1 day 5 days 98 98, 118 98, 119 Key: See page 15 for sample taking and special handling instructions. 29 22 54-55, 101 96 96 95 61, 68 61, 68 55 104 96 68-69 26 98 97-98 98 22, 26, 98 25-26, 98 98 98 98 98 25, 98 98 98 22, 98 98 97-98 97-98 22 26-27 104 104 104 141 TDL Referral labs For certain specialist tests TDL has developed a selected network of reference laboratories. The quality of these laboratories is recognised by CPA, or similar accreditation bodies for laboratories outside the UK. ABS Laboratories Ltd Academic Medical Centre Addenbrooke’s Hospital – BGU and Immunology Alan E Beer Lab Alder Hey Liverpool Anthony Nolan Lab Biolab Medical Unit Biomnis Royal Free Hospital – Department of Microbiology Hospital For Tropical Diseases – Clinical Parasitology Department Royal Free Hospital – Haematostasis Department Independent Histopathology Services Royal Free Hospital – Virology Department Institute of Neurology – Department of Neuroimmunology Institute of Neurology – Neurogenetics Unit Royal Surrey County Hospital – SAS Peptide Hormone Section Royal Victoria Infirmary SAS Leeds – Steroid Hormone Centre Bioscientia Institute of Neurology Pharmacology & Therapeutics Unit Brucella Special Diagnostics Unit IQUR Ltd Kennedy Galton Centre – Northwick Park Hospital SCSA Diagnostics Cambridge Life Sciences Cambridge Nutritional Science Ltd Cardiff & Vale Immunology Cardiff Toxicology Laboratory Cerba Charing Cross Hospital – Chemical Pathology Department Charing Cross Hospital – Infection and Immunity Charing Cross Hospital – Medical Oncology Chelsea and Westminster Hospital Childlab Churchill Hospital – Immunology Department Laboratory of The Government Chemist (LGC) Latis Scientific Life Length London School of Hygiene & Tropical Medicine – Diagnostic Parasitology Lab Manchester Royal Infirmary – Meningococcal Ref Unit Mayo Medical Laboratories Micropathology Ltd Mycology Reference Centre – Department of Microbiology, Leeds Schottdorf Sheffield Children’s NHS Trust – Clinical Chemistry Sheffield Northern General Hospital – Protein Ref Laboratory Singleton Hospital – Toxoplasma Reference Lab Southmead Hospital – Antimicrobial Ref Lab St Barts – Antenatal Screening Service DEPM St George’s Hospital – Cell Markers St Helier – Biochemistry Department St Helier – Immunology Department St Mary’s Hospital – Virology Department Synergy Health Laboratory Services City Hospital, Birmingham – Clinical Biochemistry Department National Blood Service – Red Cell Immuno Haematology Department CNC forensic toxicology National Mycobacterium Reference Lab Trace Laboratories Ltd Cromwell Hospital UCLH Biochemistry The European Laboratory of Nutrients Nutritional Analytical Service – University of Stirling Douglass Hanly Moir Pathology Pathcare Reference Lab UCLH Department of Histopathology Genoid Kft Perinatal Centre UCLH Haematology Department Great Ormond Street Hospital – Department of Chemical Pathology PHE Brucella reference unit UCLH Special Haematology PHE Centre For Infections – Enteric And Respiratory Virus Lab UCLH Virology Department Great Ormond Street Hospital – Enzyme Unit, Chemical Pathology Great Ormond Street Hospital – Immunology Department Great Ormond Street Hospital – Paediatric Malignancy H & I Laboratory PHE Centre For Infections – Virus Reference Division PHE Mycology reference laboratory – Bristol PHE Rare and imported pathogens laboratory – Porton Downs The Royal Marsden Hospital – Department of Haematology / Oncology UCLH Cytology University of Utah School of Medicine Viapath – Guy’s Biochemical Genetics Laboratory Viapath – Guy’s Purine Research Laboratory Viapath – Kings College Clinical Biochemistry Hammersmith Hospital – Molecular Endocrinology Reflab Reproductive Immunology Associates Viapath – St Thomas Hospital Haemophilia Centre Health Diagnostic Laboratory Inc Rosalind Franklin University Viapath – St Thomas Immunohistology Health & Safety Laboratory Royal Berkshire Hospital – Clinical Biochemistry Warwickshire Nuffield Hospital – Histology Lab Heartlands Hospital 142 Homerton University Hospital – Department of Clinical Biochemistry Bound Edge Bound Edge Bound Edge Test required: Integrated Antenatal Screening Service for Down’s Antenatal Service forDefects Down’s AntenatalScreening Screening Service for Down’s Syndrome & Open Neural Tube Syndrome & & Open OpenNeural NeuralTube TubeDefects Defects Combined Quadruple AFP Only Test required: Integrated Combined Quadruple AFP Only Please print name of person who discussed this option with patient Please print name of person who discussed this option with patient Name of Consultant/GP Name of Midwife Name of Consultant/GP Name of Midwife pATieNT DeTAilS pATieNT DeTAilS Surname: Hospital No.: Hospital No.: Date of birth: Date of birth: Post code: Post code: Surname: Forename: Forename: NHS No.: NHS No.: DD MM YY DD MM YY CliNiCAl DeTAilS (To be completed by Midwife or Doctor) CliNiCAl DeTAilS be completed Does the patient have Insulin dependent diabetes? First day of Last Menstrual Period(To (LMP) D D by M Midwife M Y Yor Doctor) First day of Last Menstrual (LMP) Any vaginal bleeding in the Period last 7 days? DD MM YY Outer pages when folded Outer Outer pages pages when when folded folded (no=0, yes=1) If yes please see overleaf) Any vaginal bleeding in the last 7 days? (no=0, yes=1) If yes(kgs) please see overleaf) Maternal weight Maternal weight Tube (kgs) Defect pregnancies Previous Neural (none=0, one=1, two or more=2) Previous Neural Tube Defect pregnancies (none=0, one=1, twoSyndrome or more=2)pregnancies (none=0, Previous Down’s non-inherited=1, inherited translocation=2, type not known=3) Previous Down’s Syndrome pregnancies (none=0, non-inherited=1, translocation=2, known=3) If you have hadinherited a previous pregnancy type withnot Down’s Syndrome, how old was she at the time? If you have had a previous pregnancy with Down’s Syndrome, howchromosomal old was she at the time?(no=0, yes=1). Previous other pregnancy MM YY If yes egg collection embryo transfer datedate: DD MM YY embryo If egg(s) transfer donateddate enter the donor’s DOB DD MM YY If donated donor’s DOB If egg(s) unknown, enter enter donorthe age DD MM YY If yes, cigarettes per day Did thenumber patient of take a daily supplement containing Folic Acid? (no=0, before becoming pregnant=1, once she knew she was Did the patient take a daily supplement containing Folic Acid? pregnant=2) (no=0, before becoming pregnant=1, once she knew she was pregnant=2) Has the patient had pre-eclampsia in a previous pregnancy? (no=0, yes=1) Indian/Pakistani/Bangladeshi/Sri Lankan=4, Has the patient had pre-eclampsia in a previous pregnancy? (no=0, yes=1) has had an amniocentesis performed prior to this If the patient test please see overleaf. If the patient has had an amniocentesis performed prior to this test please see overleaf. Family origin: (Black Asian=5 Caribbean/African=1 Whiteplease European=2 Chinese/Japanese/SE Other=6). If other, specify: Indian/Pakistani/Bangladeshi/Sri Lankan=4, Chinese/Japanese/SE Asian=5 Other=6). If other, please specify: DD MM YY DD MM YY FETUS 1 FETUS 2 Nuchal translucency (NT) (mm): FETUS 1 FETUS 2 Nuchal translucency (NT) (mm): Crown rump length (CRL) (mm): Hospital where scanned Number of fetuses Crown rump length (CRL) (mm): Head circumference (HC) (mm): Number of fetuses If twins are they monochorionic or dichorionic? (MC=1, DC=2) Head circumference (HC) (mm): Gestational age at time of scan If twinsBone are they monochorionic Nasal present (no=0, yes=1)or dichorionic? (MC=1, DC=2) Nasal Bone present (no=0, yes=1) Name of Sonographer Outer pages when folded Outer Outer pages pages when when folded folded DD Does patient smoke? (no=0, yes=1) If yes,the number of cigarettes per day Family origin: (Black Caribbean/African=1 White European=2 Date of scan Hospital where scanned Is thisegg an IVF pregnancy? If yes collection date: If unknown, enter smoke? donor age Does the patient (no=0, yes=1) If yes, please specify abnormality and year diagnosed: Previous other chromosomal pregnancy (no=0, yes=1). If yes, please specify abnormality and year diagnosed: ulTrASOuND SCAN ulTrASOuND SCAN Date of scan (no=0, yes=1) Does the patient have Insulin dependent diabetes? (no=0, Is thisyes=1) an IVF pregnancy? Gestational age at time of scan EDD weeks DD weeks MM YY YY Name of Sonographer Date of sample DD MM YY EDD Time taken DD MM Blood sample taken by Date of sample If integrated test, date of 2nd sample DD DD MM MM YY YY Time taken Time taken Blood sample taken by Blood sample taken by If integrated test, date of 2nd sample DD MM YY Time taken Blood sample taken by ADDreSS TO WHiCH repOrT SHOulD Be SeNT ADDreSS TO WHiCH repOrT SHOulD Be SeNT Telephone No. Fax No. Telephone No. Fax No. TAP2547_CromwellLabGuide_2015_FORMS_V1.indd 1 days days 19/11/2014 17:01 Bound Edge LEUKAEMIC STUDIES REQUEST Inner pages when folded (Cytogenetics/Molecular Genetics) THE DOCTORS L A B O R AT O R Y Leukaemic studies request (Cytogenetics/Molecular Genetics) Lab No: Priority Code: Surname: First Name: Hospital No.: Date of Birth: Consultant: Gender: Sample Type: Sample WBC (x109 /l): Sample Date: Sample Vol. (ml): Date Received: D D M M Y Y Y Y D D Male M M Y Y Y Y Female Time Received: Sample Comments: Amount Sample/Culture: Check: Referral centre/hospital: Full postal address: Inner pages when folded Tel No.: Fax No.: Referral reason/Clinical details: Disease stage: Treatment stage: Karyotype analysis required? Yes No FISH required? Yes No Probes: RT-PCR Required? Yes No Gene Fusion: SAMPLE REQUIREMENTS In preservative-free heparin and RPMI medium Preferred volume Peripheral Blood Adult: 10mls Child: 2-5mls Bone Marrow Adult: 5-10ml Child: 2-5mls Optimal time in transit Peripheral Blood: 48hrs Bone Marrow: 24hrs TAP2547_CromwellLabGuide_2015_FORMS_V1.indd 2 19/11/2014 17:01 Bound Edge THE DOCTORS L A B O R AT O R Y Genetic Request In order to provide an efficient service for Genetic Requests, please complete the following: PATIENT DETAILS REFERRING DOCTOR Surname: Name: First Name: Date of Birth: Address: / / Gender: M / F Patient Number: Ethnic Origin: Telephone: Gestation (if applicable): weeksFax: Outer pages when folded TEST REQUEST Disease Name: Gene(s) to be Analysed: Test for: Diagnosis / Carrier Screening / Known Family Mutation (please circle) Clinical Symptoms: Family History: Please state any Family Gene Mutation(s) if known: Please also provide copies of any relevant genetic or pathology (ie. haematology) reports. INFORMED CONSENT PATIENT OR GUARDIAN Please cross-out where applicable: I consent / do not consent to be tested for the genetic test(s), which have been explained to me I consent / do not consent for the results of this test to be available to assist in testing other family members I consent / do not consent for DNA from this sample to be stored I consent / do not consent for DNA to be used anonymously for relevant research Signed: Date: / / / / Outer pages when folded DOCTOR /GENETIC COUNSELLOR I have explained the purpose of obtaining a blood or tissue sample for genetic testing. Signed: Date: This consent form is for use with diagnostic testing. It is important to think through the implications of genetic testing for other family members. We strongly recommend genetic counselling for predictive testing in disorders such as Huntington’s Disease or inherited cancers. Please contact our Consultant if you have queries about consent or counselling issues. TAP2547_CromwellLabGuide_2015_FORMS_V1.indd 3 19/11/2014 17:01 LavenderEDTA 4ml / 10ml* Patient details must be hand-written on tube SAMPLE TYPES VacutainerAnticoagulant Capacity A BT LavenderEDTA 4ml Gold SST/Gel 3.5ml, 5ml B Light Blue Citrate 4.5ml C RedNone 6ml F Grey Fluoride oxalate 2ml, 4ml G Green Lithium heparin 6ml H Dark Blue Sodium heparin 7ml K * 10ml EDTA tubes are used for specific PCR assays Streck Cyto-chex BCT Vacutainers for lymphocyte subsets (CD3/CD4/CD8)Chex (stable for up to 7 days). They are not suitable for other CD markers. Blood culture bottle: contact laboratory BC Contact laboratory for advice on sample taking J Test by appointment X Random Faeces RF Faecal Collection LF Random Urine RU First Catch Random Urine (for DL12/Chlamydia, etc.) FCRU 30ml aliquot from a 24 hour urine collection – state total volume CU 30ml aliquot from a 24 hour urine collection with 10ml of 0.1N Hydrochloric Acid added – state total volume PU Early Morning Urine (1st sample of the day) EMU Sterile 60ml container SC Cytyc Thin Prep Vial TPV Orange/Blue swab for culture – swab in transport medium STM Black Charcoal swab CS Green Viral swab VS PCR swab for Chlamydia/PCR Infection Screening PCR Tap/bottled water mouth wash – 20mls MW Ammotic fluid (5mls PCR – 10mls Karyotype) AF Chorionic Villus (medium provided by laboratory) Urine cytology container Dried blood spot pack: contact laboratory TAP2547_CromwellLabGuide_2015_BackCover_V2.indd 1 CVS UCYT DBS 21/11/2014 10:15 Bupa Cromwell Hospital Cromwell Road, London SW5 0TU, United Kingdom Tel: 020 7460 2000 Fax: 020 7835 2444 E-mail: [email protected] Web: www.cromwellhospital.com TAP2547_CromwellLabGuide_2015_BackCover_V2.indd 2 21/11/2014 10:15