XA AneuScore I

Aneusomy Probe

Order Number
D-5604-500-TC
Package Size
(2x 50 Tests)
Labels
   
Chromosomes
131821XY
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 AneuScore I

The XA AneuScore I Probe Kit contains different probe mix, provided in separate test vials, for assessing chromosomal aneuploidies for chromosomes 13, 18, 21, X, and Y.

XA 13/21 (D-5602-100-OG):
The XA 13/21 mix of specific probes allows detecting copy number variations for chromosomes 13 and 21. The green labeled probe hybridizes to a region at 13q14 including the RB1 locus and the orange labeled probe hybridizes to a region at 21q22 including the DSCR4 (Down syndrome critical region 4).

XA X/Y/18 (D-5606-100-TC):
The XA X/Y/18 mix of specific probes allows detecting copy number variations for chromosomes X, Y, and 18. The probe mix is composed of repetitive sequences which hybridize to the centromeric region of chromosomes X in green, Y in orange, and 18 in blue (aqua).

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. Nowadays, it is widely accepted to provide preliminary results for the detection of anomalies in less than 12 hours.



Available in two package sizes:
D-5604-100-TC XA AneuScore I, 10 Tests
D-5604-500-TC XA AneuScore I, 50 Tests

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Images

XA AneuScore I

XA AneuScore I probe kit hybridized to normal lymphocytes. XA X/Y/18 (up) shows signals at the centromeric regions of the X chromosme in green, the Y chromosme in orange, and chromosme 18 in blue. The XA 13/21 (down) shows orange signals at 21q22 and green signals at 13q14.

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Expected Patterns

Expected Pattern 1

For signal patterns please refer to: XA 13/21 (D-5602-100-OG) and XA X/Y/18 (D-5606-100-TC).

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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!