XA TriScore (X/Y/21)

Aneusomy Probe

Order Number
D-5603-100-TC
Package Size
100 µl (10 Tests)
Labels
   
Chromosomes
XY21
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 TriScore (X/Y/21)

The XA TriScore (X/Y/21) mix of specific probes allows detecting copy number variations for chromosomes X, Y, and 21. The probe mix is composed of repetitive sequences which hybridize to the centromeric region of chromosomes X in blue (aqua) and Y in green. 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. Repetitive sequences around the centromeric region of the X and Y chromosomes can reliably determine Klinefelter syndrome (47,XXY), Triple-X syndrome (47,XXX), Turner syndrome (45,X0), and 47,XYY. This probe also allows to differentiate male fetal cells from maternal cells in blood contaminated amniocyte samples.

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Images

XA TriScore (X/Y/21)

XA TriScore (X/Y/21) hybridized to lymphocytes. Two aberrant interphases (47,XY,+21) are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell Male:
One green (1G), two orange (2O), and one blue (1B) signal.

Expected Pattern 2

Normal Cell Female:
No green (0G), two orange (2O), and two blue (2B) signals.

Expected Pattern 3

Aberrant Cell Male:
Trisomy 21
One green (1G), three orange (3O), and one blue (1B) signal.

Expected Pattern 4

Aberrant Cell Female:
Trisomy 21
No green (0G), three orange (3O), and two blue (2B) 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!