gb HEMO FV (G1691A)
allelic discrimination, real-time PCR
The kit is intended for detection of mutation G1691A (Leiden) in coagulation factor V in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Coagulation factor V is a plasmatic glycoprotein involved in the process of blood coagulation. In its activated form, factor V participates in the conversion of prothrombin to thrombin which contributes to the creation of blood clots. Mutation G1691A (so-called Leiden mutation) causes replacement of amino acid arginine by glycine in the position 506 of the factor V protein chain.
The frequency of the Leiden mutation in the healthy European population ranges between 3–5 %, whereas in patients who suffer from thromboembolic events (TEN) this frequency is about 20–40 %. The risk of venous thrombosis increases 3–10× in patients with heterozygote genotype and 20–80× in mutated homozygotes.
Parameters of the diagnostic kit
- ready-to-use assay
- sample concentration 1-100 ng/µl
- positive and negative controls included
- FAM and HEX channels detection
- identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
ABI 7500/7500 Fast (ABI)
ABI 7900HT (ABI)
AriaMx (Agilent Technologies)
iCycler iQ5 (Bio-Rad)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)
Stratagene Mx3000P/Mx30005P (Agilent Technologies)