XA 13/21
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).
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 q22.13-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.
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 q22.13-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.
Cena za kus: pro registrované
