Mdx general 1244-9963_5.indd

VALIDATED
SOLUTIONS FOR
MOLECULAR
CYTOGENETICISTS
PRODUCTS AND METHODOLOGIES
Not for distribution in the USA
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A GLOBAL LEADER
IN HUMAN AND
ENVIRONMENTAL HEALTH
PerkinElmer is a global scientific leader that is taking action to
improve the health and safety of people and their environment.
We are committed to protecting the health of expectant mothers,
babies and families. PerkinElmer is the world’s leading supplier of
newborn screening systems, a pioneer in methods for risk assessment
during pregnancy and a leader in cord blood banking. Following its
acquisition by PerkinElmer in 2010, Signature Genomics has enhanced
PerkinElmer’s molecular cytogenetics expertise.
SIGNATURE GENOMICS - CYTOGENETICS PIONEER
Signature Genomics has established cutting-edge methodologies that
are now standard in molecular cytogenetics. Founded in 2003 Signature
Genomics has analyzed over 50,000 cytogenetic samples and established
a powerful database of abnormalities. Based on this information a unique
aCGH array design has been defined that targets relevant regions for
molecular cytogenetic analysis.
As one of the pioneers in the field of molecular cytogenetic analysis,
we continuously work towards innovation and development of
cutting-edge technologies to improve human health. We aim to share
our experience and expertise with the global cytogenetics community
and significantly advance the field of cytogenetics.
3
PerkinElmer is working with its
sizeable customer base (in the
regions marked blue on the map)
to advance health care.
PERKINELMER - INNOVATORS
IN MOLECULAR
CYTOGENETICS
Faster results – higher sensitivity
PerkinElmer is bringing the newest molecular techniques to
cytogenetic laboratories.
Our innovative methodologies support:
• Higher detection rates
• More results - faster & cheaper
• Fewer unclear results
• Streamlined processes
• PerkinElmer support from sample to result
Oligonucleotide-based microarrays and bead-based
multiplex BACs-on-Beads™ (BoBs) products have been
specifically designed, developed and validated by
cytogeneticists for cytogeneticists performing molecular
karyotyping.
With the recent acquisition of chemagen, PerkinElmer is
now able to support the entire workflow incorporating
automated DNA/RNA isolation solutions.
4
PRODUCTS AND
METHODOLOGIES
CONTENTS
Products for Research
chemagen Technology - DNA/RNA extraction and purification.....................................6
EasyAmp - Single cell whole genome amplification....................................................8
BACs-on-Beads - Power to expand on existing FISH capabilities...............................9
KaryoLite BoBs....................................................................................................11
Array CGH - A comprehensive product portfolio............................................................12
CGX Oligo Arrays.................................................................................................13
CGX™ Hybridization Oven...................................................................................14
ScanRI Scanner...................................................................................................15
Genoglyphix® visualization software and database...........................................16
Products for IVD
Prenatal BoBs....................................................................................................18
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DNA/RNA ISOLATION
UNIQUE
TECHNOLOGY
FOR DNA/RNA
ISOLATION
chemagen Technology –
Complete Solutions for
DNA/RNA Isolation in
Human Genetics
A crucial step in human
genetic testing is
the isolation of high
quality DNA or RNA.
PerkinElmer’s chemagen Technology offers flexible
solutions for applications in:
• Biobanking
• Human Genetics
CHEMAGIC MSM I –
OUTSTANDING FLEXIBILITY
• 10 μl - 10 ml samples with one instrument
• Wide variety of sample material (Blood,
Blood Spots, Plasma, Cells, Tissue)
• Easy to connect to standard liquid handling systems
• Epigenetics
As the number of samples increases, the need for
automation becomes more acute. Automation
also offers better reproducibility and reliability
in the isolation process. The key competence
behind chemagen Technology is the isolation of
genomic DNA and total RNA. This competence
is expressed in chemagic Kit products, which
contain proprietary magnetic particles with a high
affinity to nucleic acids and low protein binding.
CHEMAGIC PREPITO – INNOVATIVE
BENCHTOP SOLUTION
• Up to 1 ml samples, 1 - 12 samples in parallel
• Pre-installed protocols
• Cost-effective sample preparation
CHEMAGIC KITS - MAGNETIC BEADS
FOR ENDLESS POSSIBILITIES
All products listed are for Research Use Only.
Not for use in diagnostic procedures.
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• Several kits for the isolation of genomic DNA
and total RNA
• Suitable for use with liquid handling instruments
and automated magnetic bead-based platforms
• Available as manual kits
DNA/RNA ISOLATION
CHEMAGIC
KITS
OVERVIEW
The chemagic Kit portfolio comprises a large number of kits for the isolation of DNA and RNA.
Human Genetics projects and Biobanking
Instrument
Sample Volumes
Samples/Run
chemagic DNA Blood Kit special
chemagic MSM I
50 µl - 400 µl blood
1 ml - 4 ml blood
3 ml - 10 ml blood
96
24
12
chemagic DNA Blood Spot Kit special
chemagic MSM I
Paper filter punch outs
96
chemagic DNA Saliva Kit special
chemagic MSM I
4 ml saliva
24
chemagic DNA Buccal Swab Kit special
chemagic MSM I
1 swab
96
chemagic DNA Cell12M Kit special
chemagic MSM I
1.2 x 107 cells
12
Prepito DNA Blood250 Kit
chemagic Prepito
100 µl - 250 µl
12
Prepito DNA Blood600 Kit
chemagic Prepito
600 µl
6
Prepito FFPE Kit
chemagic Prepito
10 µm section
12
Prepito DNA Tissue Kit
chemagic Prepito
animal tissues or cells
12
chemagic SEQ Pure Kit
Manual or on LH instruments
5 µl - 20 µl (without ethanol)
Prenatal Genetics and Epigenetics
Instrument
Sample Volumes
Samples/Run
chemagic Circulating NA Kit Special
chemagic MSM I
1 ml serum/plasma
4 ml serum/plasma
12
24
chemagic Amniotic Fluid Kit special
chemagic MSM I
1 ml amniotic fluid
12
chemagic Epigenetic NA Extraction
Kit special
chemagic MSM I
5 ml plasma
4 ml plasma
12
12
chemagic Epigenetic Bisulfite Purification
Kit special
chemagic MSM I
up to 500 µl bisulfite
reaction mix
96
Prepito DNA Cyto Pure Kit
chemagic Prepito
250 µl blood, 10 mg tissue or
1 - 5 ml pelleted amniotic fluid
12
Prepito Circulating NA1k Kit
chemagic Prepito
1 ml serum/plasma
12
Isolation of total RNA
Instrument
Sample Volumes
Samples/Run
chemagic RNA Blood Kit special
chemagic MSM I
2.5 ml stabilized blood
2.5 ml stabilized blood
12
24
chemagic RNA Saliva Kit special
chemagic MSM I
1 ml serum/plasma
12
chemagic mRNA/gDNA Kit special
chemagic MSM I
2 ml blood or bone marrow;
max. cell number 20 x 106
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Further chemagic Kits are available on request.
Products listed are for Research Use Only.
Not for use in diagnostic procedures.
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WHOLE GENOME AMPLIFICATION
EASYAMP
Single Cell Whole
Genome Amplification
with EasyAmp™
EasyAmp™ is a single cell whole
genome amplification (WGA) kit that
can be used when the amount of DNA
is not sufficient to perform the direct
analysis, e.g. research in vitro fertilization (IVF) applications
on single cells. EasyAmp WGA is based on technology from
Rubicon Genomics.
Reliable and Reproducible Amplification Technology
EasyAmp enables the researcher to obtain the amount
of DNA from only one cell that previously required over
10,000 cells for subsequent analyses. EasyAmp, in contrast
to other single cell amplification methods, delivers amplified
genomic DNA that reproducibly represents all sequences with
low allele drop out. EasyAmp can be used on polar bodies,
blastomere or blastocyst cells for preimplantation genetic
diagnosis (PGD) and preimplantation genetic screening (PGS)
research applications.
Lysis/extraction
buffer
Pre-amp
cocktail
RAPID AND ROBUST ONE-TUBE
PROTOCOL
• Simple 1-tube, 3-step and 3 hour
protocol
• Eight components sufficient to
perform 50 (or 12) reactions
• About 1 million fold amplification of a
single cell to produce 3-5 micrograms
of DNA
• Low background
• Reproducible locus amplification
• No allele bias
EasyAmp reagents are for Research Use Only.
Not for use in diagnostic procedures.
Amplification
cocktail
Add cell in ~2
microliters or
less PBS
Analysis
15 min
90 min
60 min
3 µg aDNA
The EasyAmp™ whole genome amplification process amplifies a single cell’s DNA
approximately one million-fold to give 3-5 micrograms of amplified DNA.
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BACS-ON-BEADS TECHNOLOGY
THE POWER OF
BACS-ON-BEADS
BACs-on-Beads™
(BoBs™)
is an exciting new technology
from PerkinElmer.
By immobilizing BAC (bacterial
artificial chromosome) derived DNA probes onto
Luminex® xMAP® fluorescently coded beads, BoBs
enables rapid detection of copy number changes in
targeted genomic regions from a minute amount
of DNA. BACs-on-Beads technology supports high
throughput molecular karyotyping in a microplate
well which, in turn, can lead to greater laboratory
efficiency and better use of resources.
Expand on your FISH capability
using BoBs technology
BACs are large cloned sequences of human DNA,
typically 150,000 - 170,000 basepairs long. When
coupled to Luminex® xMAP® beads, the length of
the BACs is a useful property. BAC derived DNA
probes have a higher signal-to-noise ratio compared
to smaller DNA probes regardless of the DNA quality.
This represents an important advantage when
working with samples such as amniotic fluid, CVS,
POC (product of conception) and DNA amplified
from single or few cells. The advantage of BACs
over oligonucleotides, which are often less than 100
basepairs long, is that fewer probes are needed for
the same coverage of a target region. Results of
unclear clinical significance that are common with
other fast molecular karyotyping techniques are rarely
encountered with the new BACs-on-Beads assays.
BAC DNA has long been used as probes for FISH
(fluorescence in situ hybridization) in cytogenetic
laboratories. Now, with the availability of the BACson-Beads technology multiple FISH probes can be
handled in a single well and you can perform the
equivalent of tens to hundreds of FISH experiments
simultaneously.
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BACS-ON-BEADS TECHNOLOGY
LUMINEX
XMAP
TECHNOLOGY
Assay Based on
Luminex® xMAP®
Technology
is an established multiplexing
technology utilizing approximately 5 μm
diameter polystyrene beads that have
been impregnated with a specific ratio
of two different fluorescent dyes.
By using ten different concentrations of each of the two
dyes it is possible to generate up to 100 bead types with
distinct fluorescent signatures, or spectral addresses that
can be identified through excitation of the impregnated
dyes when read by the Luminex 100/200™ instrument.
The advantage of the Luminex® instrument
platform lies in the fact that up to 100 different
bead types can be mixed together and the
experiment can be performed in a multiplexed
fashion using microplates.
The instrument can automatically aspirate the beads from
each well of a 96-well plate, and by use of a flow system
that allows one bead to be interrogated by two lasers
simultaneously, all beads can be classified and quantified
within the assay in a short amount of time.
Easy interpretation of the Copy Number Changes
with BoBsoft™ Analysis Software
BoBsoft™ analysis software takes the output file generated by
the Luminex® 100/200™ instrument, and analyzes the data.
The signal intensities from the sample and reference DNA
are compared to provide a clear display of any copy number
changes in the targeted regions.
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BOBS PRODUCTS BRING THESE BENEFITS
TO YOUR WORK
• Robust assay with low quality DNA from
various sample types
• Enables high throughput analysis as tens of
samples can be run simultaneously reducing
the hands-on time
• Resources are optimized as sample volume
can be increased without increasing staffing
• Complete procedure from extracted DNA to
result availability takes less than 24 hours
• Results are clear and easy to interpret
• More information due to the
multiplexing power of xMAP®
KARYOLITE
BOBS™
BACS-ON-BEADS
TECHNOLOGY
KARYOLITE
BOBS
24 Chromosomes
in 24 Hours
KaryoLite BoBs™ has been
developed to detect arm
specific aneuploidies in all 24
chromosomes in a single assay for research use only.
The product covers p and q arms of all chromosomes
1-22, X and Y. Based on the BACs-on-Beads
technology, it consists of BAC DNA immobilized onto
polystyrene microspheres distinguishable by the
Luminex® instrument system.
Research may be performed with KaryoLite BoBs using
only 50 ng of genomic DNA extracted directly from
amniotic fluid, chorionic villae or fetal tissue. As no cell
culturing is required with any BoBs assay, KaryoLite BoBs
offers a clear advantage over conventional cytogenetic
techniques in cases in which cell culture is problematic,
for example in POC (product of conception) analysis.
KaryoLite BoBs utilizes a new concept of composite
beads having DNA from three different BAC clones on
each bead type. The composite clone format expands
the region of chromosomal DNA interrogated by each
bead.
The probes used have been carefully selected to give
information about the whole chromosome including the
distal and proximal region of the chromosome arms. For
acrocentric chromosomes (13, 14, 15, 21 and 22) three
beads have been selected to cover exclusively the q-arms.
KaryoLite BoBs utilizes a new concept of
composite beads having three different
BAC clones on each bead type.
Results in Under 24 hours with
Hands-On Time ~ 3.5 hours
See these references
Grati FR et al. Application of a new molecular technique for the genetic evaluation of
products of conception. Prenat Diagn. 2012, 32, 1–10. DOI: 10.1002/pd.4004.
Paxton CN et al. Rapid aneusomy detection in products of conception using the KaryoLite™
BACS-on-Beads™ assay. Prenat Diagn. 2012, 32, 1-7. DOI: 10.1002/pd.4003.
KaryoLite BoBs reagents are for Research Use Only. Not for use in diagnostic procedures.
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ARRAY COMPARATIVE GENOMIC HYBRIDIZATION TECHNOLOGY
ARRAY
CGH
Oligonucleotide Array
CGH Solution developed
karyotyping methods,
by Signature Genomics Traditional
such as FISH or G-banding, are
well established for detecting
chromosomal aberrations however, these
methods are limited by speed, throughput and
resolution.
While these traditional methods are able
to detect microscopic visible chromosomal
alterations such as an extra chromosome band,
smaller gains or losses in the genome cannot be
found reliably. Array CGH in contrast enables
higher resolution genome analysis and allows
the detection of submicroscopic chromosomal
imbalances across the genome in one single
experiment.
As one of the pioneers in the field of Molecular
Cytogenetics, Signature Genomics, a PerkinElmer
company, has early on established cutting-edge
technologies that are now the standard for
detection of chromosomal abnormalities.
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Signature Genomics from the beginning
has used a ‘genotype-first’ approach and
has developed an oligoarray design for the
detection of submicroscopic aberrations
associated with learning disability and
dysmorphic features. This array design has
led to a partnership between Signature
Genomics, PerkinElmer and Agilent
Technologies, Inc.
This partnership allows clinical researchers
access to relevant cytogenetic content
through the use of our streamlined and
robust CGX workflow.
ARRAY COMPARATIVE GENOMIC HYBRIDIZATION TECHNOLOGY
CGX
OLIGO ARRAYS
CGX Oligo Arrays are
oligonucleotide-based
microarrays
specifically designed,
developed and verified by
Signature Genomics for the
detection of small genetic aberrations associated
with learning disability and dysmorphic features in
research applications. The oligonucleotide probes on
the CGX™, CGX™-HD and CGX™-SNP arrays cover
the entire human genome with specific focus on
over 245 cytogenetically relevant regions, 980
functionally significant genes, pericentromeric
regions, and subtelomeres.
Almost every abnormality detected by CGX
Oligo Arrays can be visualized by FISH
FISH confirmation might be required to identify
structural changes and the possible source of any
change. With the possibility for ordering unlabeled
BAC clone DNA for confirmation purposes,
PerkinElmer offers a total solution package
consisting of discovery and confirmation options.
CGX Oligo Arrays are Research Use Only products.
Not for use in diagnostic procedures.
CGX Oligo Arrays are designed by Signature Genomics
and manufactured by Agilent Technologies, Inc.
CGX OLIGO ARRAYS CHARACTERISTICS
THAT WILL BENEFIT YOUR WORK
• Proven design, representing over 245 known
syndromic regions and over 980 functionally
significant genes
• Three different array types based on the
same design to adjust for throughput and
detection requirements including Absence of
Heterozygosity (AOH) and Uniparental Disomy
(UPD) detection
––
CGX™: 8x60K with a resolution of 190 kb
in the backbone, and 28 kb in the targeted
regions
––
CGX™-HD: 4x180K with a resolution of
40 kb in the backbone, and 20 kb in the
targeted regions
––
CGX™-SNP: 4x180K with a resolution of
80 kb in the backbone, and 20 kb in the
targeted regions. In addition, detection
of contiguous stretches of Absence of
Heterozygosity (AOH) of approximately
5-10 Mb
• All designs updated to HG19
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ARRAY COMPARATIVE GENOMIC HYBRIDIZATION TECHNOLOGY
CGX™ HYBRIDIZATION
OVEN
CGX™
Hybridization
Oven
The CGX™ Hybridization Oven is
designed for optimal hybridization
performance to achieve consistent and
reliable results. The oven is a compact
and flexible instrument designed for an optimal
microarray processing workflow.
• High Throughput
The oven is designed to hold up to 24 CGX™
Hybridization Chambers.
• Consistent Data
Reproducible results; increased sensitivity
and specificity.
• Flexibility
• Variable temperature control range;
from + 5° to 70°C (+/- 0.1°C)
• Variable rotation speed control
from 5 to 20 RPM.
SPECIFICATIONS
• Rotator Motor Speed 2 to 20 RPM
• Approximate Oven
Dimensions
Height: 22.0" (55.8 cm)
Width: 17.4" (44.5 cm)
Depth: 17.75" (39.5 cm)
• Approximate Chamber Height: 14.5" (36.8 cm)
Dimensions
Width: 12.5" (31.8 cm)
Depth: 12.0" (30.5 cm)
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• Operating
Temperature Range
+ 5° to 70°C (+/- 0.1°C)
• Weight 75 lbs (34.0 kg)
• Power Input 110-120 volts, 220-240 volts
• Hybridization Chamber Holds up to 24 hybridization Rotator Rack
chambers during hybridization
ARRAY COMPARATIVE GENOMIC HYBRIDIZATION TECHNOLOGY
SCANNING AND
VISUALIZATION
Fast and Sensitive
Scanning with ScanRI
ScanRI™ is one of the fastest microarray
scanners on the market enabling the
capture of images in approximately
20 min when scanned at 3 μm resolution.
It provides simultaneous 2-color image
acquisition with scanning resolution from
3 μm to 40 μm. Combined with its small
size, low background noise and high
sensitivity, ScanRI provides an attractive
solution for array users.
SCANRI SCANNER MAIN SPECIFICATIONS
• Weight 15.5 kg
• Dimensions 278 x 457 x 369 mm3
• Laser excitation wavelengths of 532 nm
and 635 nm
• Simultaneous 2-color scanning
• Scanning resolution from 3 μm to 40 μm
• Low background noise and high sensitivity
• Uniform scanning across the microarray slide
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ARRAY COMPARATIVE GENOMIC HYBRIDIZATION TECHNOLOGY
PERKINELMER
ARRAY SOFTWARE
SOLUTIONS
Genoglyphix®: turning
50,000 samples into Genoglyphix is
a powerful data
meaning
visualization software
®
and database based
on the analysis of over 50,000 verified cytogenetic
samples.
Genoglyphix® offers a proven analysis tool with
a complete workflow including sample tracking,
aberration categorization, data interpretation, report
creation functionality and data sharing options with
other Genoglyphix® users worldwide.
DESIGNED BY CYTOGENETICISTS FOR
CYTOGENETICISTS
Genoglyphix® sets a new standard for array based
cytogenetic analysis. Developed by Signature Genomics
and available exclusively with CGX oligo arrays,
Genoglyphix® genome browser software provides
intuitive data visualization and annotation features for
streamlined and rapid analysis of CGX data.
GENOGLYPHIX® – BRINGING
MULTIPLE GENETIC DATABASES INTO
ONE TOOL
• Access to Signature’s database containing
over 12,000 verified genetic alterations
identified in over 50,000 samples
• Direct links to other relevant databases
such as the DGV, OMIM, PubMed, UCSC
and Ensembl for easy data interpretation
• Secure web based (128-bit encryption)
access to Genoglyphix® database and
software
GENOGLYPHIX® EASILY GUIDES
CYTOGENETICISTS THROUGH
ANALYSIS WITH CONVENIENT TOOLS
• Generation user defined databases
and custom tracks displaying abnormal
results, copy number variants and analysis
notes
• Data display in HG18 or HG19
• Report creation functionality
• Optional sharing of data with other
Genoglyphix® users
Genoglyphix ® software is for Research Use Only.
Not for use in diagnostic procedures.
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• Availability of FISH probes for result
confirmation
ARRAY COMPARATIVE GENOMIC HYBRIDIZATION TECHNOLOGY
GENOGLYPHIX
®
GENOME
BROWSER
GRAPHICAL REPRESENTATION OF ABERRATIONS
IN THE GENOGLYPHIX® GENOME BROWSER
• Display of normal copy number
variation in DGV within the
selected genomic region
• Display of similar aberrations
within the Signature Genomics
data base
• Display of GC content in the
selected genomic region
• Display of genes within the
selected genomic region
• Display of known syndromes
within the selected genomic
region
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IVD PRODUCT
PRENATAL
BOBS
A more informative
option than FISH and
QF-PCR for IVD Labs
Prenatal BoBs™ is a CE-marked IVD product based on BACson-Beads technology. In addition to detecting copy number
changes of chromosomes 13, 18, 21, X and Y, the product
enables detection of 9 additional chromosomal regions in which
a clear correlation between a loss and an adverse outcome has been demonstrated.1 Copy
number changes in these targeted microdeletion regions are not easily found with other
commonly used methods. Also the microdeletion syndromes detected by Prenatal BoBs
often are not inherited and do not display ultrasound abnormalities, so they may otherwise
be missed in a prenatal setting.
Low Input Material – Fast Results
Analysis using Prenatal BoBs can be performed with 50-250 ng
genomic DNA, an amount which can be obtained from 3-5 mL
of amniotic fluid or from 1 villus. Results are ready in 24-48 hours
from the time of sampling.
Prenatal BoBs is a
CE-marked IVD
product based on
PerkinElmer BACs-onBeads technology
(described on pages
9-10).
Aneuploidies Cytoband
Trisomy 13: Patau Syndrome
Chr 13
Trisomy 18: Edwards Syndrome
Chr 18
Trisomy 21: Down Syndrome
Chr 21
Sex Chromosome Abnormalities Chr X, Chr Y
Clear Result Interpretation
Microdeletion Syndrome
Cytoband
In Prenatal BoBs a gain or loss of a region is called if three or
more probes within a given target region exceed the cut-off for
gain or loss. Frequencies of aneuploidies and single microdeletion
syndromes vary from common to rare. It is expected that there is
a finding of an aneuploidy or microdeletion syndrome region with
the Prenatal BoBs kit in every 1/250 births.2
DiGeorge Syndrome
22q11.2
DiGeorge 2 Syndrome
10p14
Williams-Beuren Syndrome
7q11.2
Prader-Willi Syndrome
15q11-q12
Angelman Syndrome
15q11-q12
Smith-Magenis Syndrome
17p11.2
Wolf-Hirschhorn Syndrome
4p16.3
Cri du Chat Syndrome
5p15.3-p15.2
Langer-Giedion Syndrome
8q23-q24
Miller-Dieker Syndrome
17p13.3
Prenatal BoBs reagents are not available in the USA and Canada.
In other countries please check availability with your PerkinElmer sales representative.
LITERATURE:
1. OMIM: http://www.ncbi.nlm.nih.gov/omim/ #105830, #123450, #150230, #176270, #182290, #188400, #194050, #194190, and #247200
2. Vialard et al. Prenatal BACs-on-Beads: the prospective experience of five prenatal diagnosis laboratories, Prenat Diagn. 2012, 32, 329-335.
See also
Cheng YKY et al. The detection of mosaicism by Prenatal BoBs™ Prenat Diagn. 2012, 32, 1–8 DOI: 10.1002/pd.4006.
Gross SJ et al. Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes, Prenat Diagn. 2011 Mar;31(3):259-66.
Vialard F et al. Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis, Prenat Diagn. 2011 May;31(5):500-8.
Shaffer LG et al. The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes, Prenat Diagn. 2011 Aug;31(8):778-87.
Popowski T et al. Williams-Beuren Syndrome: the prenatal phenotype, Am. J. Obs & Gyn. 2011.
Izzo A et al. 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features, Eur. J. Med. Genet. 2012 Feb 55 (2) 140-144.
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ORDERING INFORMATION
Product Number
Product Name
Product Number
chemagen products
Product Name
Easy Amp
CMG-1072
chemagic DNA Blood Kit special, 50 µl, 96 samples
4502-0010
EasyAmp 50 reaction WGA kit
CMG-721
chemagic DNA Blood Kit special, 100 µl, 96 samples
4503-0010
EasyAmp 12 reaction WGA kit
CMG-746
chemagic DNA Blood Kit special, 250 µl, 96 samples
BACs-on-Beads
CMG-1091
chemagic DNA Blood Kit special, 400 µl, 96 samples
1014-0020
Luminex® 200 w/ xPONENT®
CMG-1086
chemagic DNA Blood Kit special, 1 ml, 24 samples
4500-0020
Constitutional BoBs
CMG-1097
chemagic DNA Blood Kit special, 2 ml, 24 samples
4501-0010
KaryoLite™ BoBs™
CMG-1074
chemagic DNA Blood Kit special, 4 ml, 24 samples
5012-0010
BoBsoft 1.1 Research Analysis Software
CMG-763-1
chemagic DNA Blood Kit special (4 ml elution tubes), 3 ml, 12 samples
5012-0102
BoBsoft 2.0 Research Analysis Software
CMG-763-2
chemagic DNA Blood Kit special (13 ml elution tubes), 3 ml, 12 samples
CGX™
CMG-703-1
chemagic DNA Blood Kit special (13 ml elution tubes), 5 ml, 12 samples
1013-0010
ScanRI
CMG-703-2
chemagic DNA Blood Kit special (4 ml elution tubes), 5 ml, 12 samples
1013-0020
ScanRI PC
CMG-715
chemagic DNA Blood Kit special, 7 ml, 12 samples
5016-0010
Genoglyphix SW
CMG-704
chemagic DNA Blood Kit special, 10 ml, 12 samples
4113-0010
CGX™ HD/SNP Gasket Slides-100
CMG-1030
chemagic DNA Blood Spot Kit special, 3 - 6 mm paperfilter punch outs,
96 samples
4114-0010
CGX™ Gasket Slides-100
CMG-1081
chemagic DNA Saliva Kit special, 4 ml, 24 samples
4115-0010
CGX™ HD/SNP Gasket Slides-20
CMG-1035
chemagic DNA Saliva Kit special, 12 samples
4116-0010
CGX™ Gasket Slides-20
CMG-748
chemagic DNA Buccal Swab Kit special, 96 samples
4117-0010
CGX™ Ozone-barrier slide covers
CMG-756
chemagic DNA Cell12M Kit special, 12 samples
4118-0010
CGX™ (2 slides per pack)
CMG-2002
Prepito DNA Blood250 Kit, 12 samples
4119-0010
CGX™ (4 slides per pack)
CMG-2004
Prepito DNA Blood600 Kit, 6 samples
4122-0010
CGX™ HD (2 slides per pack)
CMG-2027
Prepito FFPE Kit, 10 µm section, 12 samples
4123-0010
CGX™ HD (4 slides per pack)
CMG-2010
Prepito DNA Tissue10 Kit, 10 mg tissue, 12 samples
4124-0010
CGX™ SNP (2 slides per pack)
CMG-108
chemagic SEQ Pure Kit, 10 - 20 µl
4125-0010
CGX™ SNP (4 slides per pack)
CMG-459
chemagic SEQ Pure Kit LH, 10 µl
1015-0020
CGX™ Hybridization chamber, stainless
CMG-458
chemagic SEQ Pure Kit LH, 20 µl
1015-0040
CGX™ Hybridization oven
CMG-1096
chemagic Circulating NA Kit special, 1 ml, 12 samples
1015-0030
CGX™ Hybridization oven rotator
CMG-1090
chemagic Circulating NA Kit special, 4 ml, 24 samples
4130-0010
CGX™ Cot-1 Human DNA
CMG-797
chemagic DNA Amniotic Fluid Kit special, 1 ml, 12 samples
4131-0010
CGX™ Oligo aCGH Hybridization Kit
CMG-1068
chemagic Epigenetic NA Extraction Kit special, 5 ml, 12 samples
4132-0010
CGX™ Oligo aCGH Wash Kit
CMG-1088
chemagic Epigenetic NA Extraction Kit special, 4 ml, 24 samples
4135-0010-P4
CGX™ DNA Labeling Kit – Purification Columns
CMG-1069
chemagic Epigenetic Bisulfite Purification Kit special, 500 µl, 96 samples
4134-0010
CGX™ Stabilization and Drying Solution
CMG-2034
Prepito DNA Cyto Pure Kit, 12 samples
4135-0010
CGX™ DNA Labeling Kit
CMG-2025
Prepito Circulating NA1k Kit, 6 samples
CMG-1083
chemagic RNA Blood Kit special, 12 samples
CMG-1084
chemagic RNA Blood Kit special, 24 samples
CMG-1093
chemagic RNA Saliva Kit special, 1 ml, 12 samples
CMG-1031
chemagic mRNA/gDNA Kit special, 2 ml blood or bone marrow, 12 samples
Product Number
Product Name
IVD
3100-0020
Prenatal BoBs™
1014-0020
Luminex® 200 w/ xPONENT®
5012-0020
BoBsoft 1.1 Analysis Software
5012-0202
BoBsoft 2.0 Analysis Software
19
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1244-9963-05, December 2012