XA 21q22

Aneusomy Probe

Order Number
D-5601-100-OR
Package Size
100 µl (10 Tests)
Labels
 
Chromosome
21
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XA 21q22

The XA 21q22 specific probe allows detecting copy number variations for chromosomes 21. The orange labeled probe hybridizes to a region at 21q22 including the DSCR4 (Down syndrome critical region 4).

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

Numerical aberrations of autosomes 13, 18, 21, and sex chromosomes X and Y account for 95% of birth defects in newborns. FISH applied to uncultured amniocytes provides a method to identify those aberrations much faster than conventional chromosome analysis. It has become a standard to provide preliminary results for the detection of anomalies in less than 12 hours.

Duplications of chromosome bands 21q22.13-q22.2 have been shown to define the smallest region implicated in the causation of Down syndrome.

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Images

XA 21q22

XA 21q22 was hybridized to normal lymphocytes. A metaphase is shown with orange signals hybridized to 21q22.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two orange (2O) signals.

Expected Pattern 2

Aberrant Cell:
Trisomy 21
Three orange (3O) signals.

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Literature

  • Tepperberg et al (2001) Prenat Diagn 21:293-301
  • Ronan et al (2007) J Med Genet 44:448-451
  • Korbel et al (2009) Proc Natl Acad Sci USA 106:12031-12036

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!