XA 13/18/21

Aneusomy Probe

Order Number
D-5607-100-TC
Package Size
100 µl (10 Tests)
Labels
   
Chromosomes
131821
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 13/18/21

The XA 13/18/21 mix of specific probes allows detecting copy number variations of chromosomes 13, 18, and 21. The green labeled probe hybridizes to a region at 13q14 including the RB1 locus, the blue (aqua) labeled probe hybridizes to a locus at 18q21, and 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. Trisomy 13 syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy). Based on molecular results, a region ranging from from 13q14-13qter has been found to be critically involved in Patau syndrome. Most of the features of Edwards syndrome have been shown to be associated with duplication of the region 18q12.3-q22.1. A locus-specific probe for 18q21 gives clearer signals and provides less ambiguous results compared to a centromeric probe for chromosome 18.

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Images

XA 13/18/21

XA 13/18/21 hybridized to cultured amniocytes. A normal signal constellation is observed for 13q14 and 21q22, two green and two orange signals, respectively. For the 18q21 locus-specific probe three blue signals are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G), two orange (2O), and two blue (2B) signals.

Expected Pattern 2

Aberrant Cell:
Trisomy 13
Three green (3G), two orange (2O), and two blue (2B) signals.

Expected Pattern 3

Aberrant Cell:
Trisomy 21
Two green (2G), three orange (3O), and two blue (2B) signals.

Expected Pattern 4

Aberrant Cell:
Trisomy 18
Two green (2G), two orange (2O), and three blue (3B) signals.

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Literature

  • Bryndorf et al (1996) Am J Hum Genet 59:918-926
  • Tepperberg et al (2001) Prenat Diagn 21:293-301
  • Stumm et al (2006) Cytogenet Genome Res 114:296-301

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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!