Chromosomal abnormalities, alterations and aberrations are at the root of many inherited diseases and traits. Chromosomal abnormalities often give rise to birth defects and congenital conditions that may develop during an individual’s lifetime. 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, resulting in only one copy of the genetic material, while trisomy is the presence of an extra chromosomal region or entire chromosome, resulting in three copies of the genetic material.
The Aneufast™ QF-PCR Kit is a molecular diagnostic assay designed for rapid detection of chromosomes 13, 18, 21, X and Y aneuploidies by Quantitative Fluorescent PCR (QF-PCR) with 100% sensitivity and specificity for non-mosaic trisomies. The kit contains a total of 36 markers in six multiplex reactions that amplify selected Short Tandem Repeats (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 4 chromosome specific extra markers sets allows definitive results in 100% of cases.
Aneufast™ has been developed for the 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.
Sample
DNA Extraction
15 min.
QF-PCR Amplification
90 min.
Electrophoresis - Analysis
50 min.
