XA AneuScore III (XA 13/18/21 + XA X/Y/18)
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.
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.
Cena za kus: pro registrované
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.
Cena za kus: pro registrované
