XA AneuScore III

Aneusomy Probe

Order Number
D-5613-500-TC
Package Size
(2x 50 Tests)
Labels
   
Chromosomes
131821XY

Description

XA AneuScore III

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

XA 13/18/21 (D-5607-100-TC):
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).

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 map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale.

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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 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. Repetitive sequences around the centromeric regions of chromosomes X and Y can reliably identify Klinefelter syndrome (47,XXY), Triple-X syndrome (47,XXX), Turner syndrome (45,X0), and 47,XYY.



Available in two package sizes:
D-5613-100-TC XA AneuScore III, 10 Tests
D-5613-500-TC XA AneuScore III, 50 Tests

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Images

XA AneuScore III

XA AneuScore III hybridized to amnioncytes of two different patients. XA 13/18/21 (upper image) shows a normal signal constellation for 13q14 and 21q22, two green and two orange signals, respectively. For the 18q21 locus-specific probe three blue signals are observed. XA X/Y/18 (lower image) shows a normal signal constellation with one orange (Y centromere-specific), one green (X centromere-specific) and two blue (18 centromere-specific) signals.

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Expected Patterns

Expected Pattern 1

For signal patterns please refer to: XA X/Y/18 (D-5606-100-TC) and XA 13/18/21 (D-5607-100-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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