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 maps for selected products have been updated. These updates ensure a consistent presentation of all gaps larger than 10 kb including adjustments to markers, genes, and related elements. This update does not affect the device characteristics or product composition. Please refer to the list to find out which products now include updated probe maps.

Probe map details are based on UCSC Genome Browser GRCh37/hg19, with map components not to scale.

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.



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

XA AneuScore III hybridized to amniocytes 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.

• 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