Overview
Chromosomal abnormalities, alterations and aberrations are at the root of many inherited diseases and traits. Numerical chromosome abnormalities (aneuploidies) can occur with either the autosomes or the sex chromosomes. Monosomy is the absence of a chromosomal region or entire chromosome, while trisomy is the presence of an extra chromosomal region or entire chromosome.
The Aneufast™ QF-PCR Kit is a molecular diagnostic assay designed for rapid detection of chromosomes 13, 18, 21, X and Y aneuploidies by QF-PCR with 100% sensitivity and specificity for non-mosaic trisomies. The kit contains 36 markers in six multiplex reactions that amplify selected STRs and the gender determining sequences Amelogenin-SRY. Two multiplex QF-PCR amplifications of 21 markers (S1 and S2) are designed to be analysed in a single electrophoresis to increase sample throughput. The inclusion of chromosome specific extra marker sets supports definitive results across cases.
Aneufast™ has been developed for amplification of DNA extracted from fresh prenatal samples such as Amniotic Fluids, Chorionic Villus Samples (CVS) or fetal blood. It can also be used to analyze neonatal and adult blood or tissue samples.