The GTHapScreen PAH kit is developed to detect carrier and/or affected sample for Phenylketonuria (commonly known as PKU). The kit functions on the principle based on STR markers and QF PCR technique to detect carrier or to be patient by linkage analysis. Use of STR markers makes prenatal diagnosis more accurate and reliable.
Kit components include multiplex PCR primers which are designed from PAH gene. This gene is commonly used in carrier detection and prenatal diagnosis of Phenylketonuria. STR markers designed from 7 regions that covers the upstream, downstream and Intron of the PAH gene.
This kit is optimised to use DNA samples purified from blood, amniotic fluid, and chorionic villus (CVS).
Along with PKU detection the GTHapScreen PAH kit includes autosomal STR markers for Chromosome 21, 18, 13, X and Y. These markers provide extra advantages along with detection of this disorder.
Features
Aids carrier detection and prenatal diagnosis
Rules out/in sample authenticity, maternal cell contamination
It detects uniparental disomy
Chromosomal aneuploidy detection
Determination of fetus’ sex