Cystic fibrosis (CF) is an inherited autosomal recessive genetic disorder. It is more common in Europe and of European descent. The gene responsible for the disease is named CFTR. It is located on the long arm of chromosome 7 (7q36.3). Carrier screening and prenatal diagnosis are practiced in many countries. Accurate prenatal diagnosis is a must to avoid birth of an affected child if prenatal diagnosis is performed.
Genetek has been trying to help and support the medical genetics profession by providing state-of-the-art kits and products. The GT HapScreen series of kits is part of this mission and is an innovative approach for more accurate PND for several diseases. The GT HapScreen® CFTR kit has been developed to aid prenatal diagnosis and carrier detection of Cystic Fibrosis. The kit functions on the principle of haplotyping and linkage analysis, using STR markers linked to the CFTR gene. The STR markers flanking the CFTR gene have been carefully selected and intensively checked to have high heterozygosity and no known SNP in the primer annealing sites. The chromosome 7 primers extend over the upstream and downstream of the CFTR gene. The kit also contains STR markers on chromosomes 21, 18, 13, X, and Y to act as a QF-PCR technique for screening common aneuploidies. The use of STR markers makes prenatal diagnosis more accurate and reliable, with many advantages like sample authenticity, MCC detection, detecting gonadal mosaicism, uniparental disomies, etc.
After a multiplex PCR using the parental and fetal DNA, the samples are run on a capillary electrophoresis system and alleles as sizes are used to draw haplotypes as outlined in the user manual.
Premium Features
•AidShows how disease gene is segregated;
•s carrier detection and prenatal diagnosis;
•Rules out/in sample authenticity, maternal cell contamination, sample mix-up;
•Detects disomies (UPID and UPHD);
•Detects Chromosomal aneuploidy;
•Determines sex of the fetus.
For research use only. Not for use in diagnostic procedures
Markers
Markers present in the GT HapScreen® CFTR kit
Markers (panel)
D7CFTRSU8.9, D7CFTRSD19.5, D7CFTRSD9.8, D7CFTRSU8.7, D7CFTRSD3.03, D7CFTRSU13.7, D21S1446, D21S1414, D18S535, D18-GATA178, D13S325, D13S252, DXTATAC13.3, AMXY and SRY
Compatibility
This kit is compatible with 5 dyes capillary electrophoresis systems such as with ABI 3130/xl, 3500/xL Genetic Analyzers or Compact Spectrum CE System with either 30, 50, or 80 capillaries.
This kit can be used on various sources of DNA including DNA extracted from various sources or DNA obtained using any of extraction free (direct) materials from Genetek, such as GT AFLB (Amniotic Fluid Lysis Buffer), GT CVLB (Chorionic Villus Lysis Buffer, GT BLB (Blood Lysis Buffer), and filter papers (GT DBC or GT DBC Blue).
Kit Content
The kit contains all the necessary reagents and buffers for multiplex PCR (Multiplex Primer mix, PCR buffer, GT HSTaq DNA Pol in Box A). Also, the kit comes with GT500 size standard as well as GTM5 v2 Matrix Standard for calibrating the Genetic Analyzer (Box B).
