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Genetics · Factor V Leiden
Viennalab Distributed by Goffin Diagnostics

FV Leiden PCR Assay

The FV Leiden RealFast™ Assay is a fast and accurate real-time PCR test for the detection of the 1691G>A mutation in the human coagulation Factor V (F5) gene. The point mutation, referred to as FV Leiden, is associated with hereditary thrombophilia. The kit is designed to identify patients at risk of venous thromboembolism. The qualitative assay discriminates the three possible FV 1691G>A genotypes in a human DNA extract: GG (normal), GA (heterozygous) or AA (homozygous mutant). Reference sequence: HGVS: NG_011806.1 g.41721G>A; NCBI dbSNP: rs6025.

Real-Time PCR Viennalab 1 Unit (100 Reactions), 1 Unit (32 Reactions)
Technique
Real-Time PCR
Brand
Viennalab
Packaging
1 Unit (100 Reactions), 1 Unit (32 Reactions)
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This kit in detail

The FV Leiden RealFast™ Assay is a fast and accurate real-time PCR test for the detection of the 1691G>A mutation in the human coagulation Factor V (F5) gene. The point mutation, referred to as FV Leiden, is associated with hereditary thrombophilia. The kit is designed to identify patients at risk of venous thromboembolism. The qualitative assay discriminates the three possible FV 1691G>A genotypes in a human DNA extract: GG (normal), GA (heterozygous) or AA (homozygous mutant).

Reference sequence: HGVS: NG_011806.1 g.41721G>A; NCBI dbSNP: rs6025.

  • FV Leiden mutation detection
  • Rapid testing process: real-time PCR
  • Genotype differentiation: normal, heterozygous, homozygous
  • Clinical impact: risk of thrombotic disorders

FV is a major player in the coagulation cascade. Activated FV is cleaved and degraded by activated protein C, thereby limiting excessive blood clotting. The mutation 1691G>A causes a single amino acid exchange at position 506 (R506Q), which alters a cleavage site and subsequently prevents efficient inactivation of FV. In allele A carriers, persisting FV activity facilitates the generation of other activated coagulation factors and consequently increases the risk of clot formation in veins. Approximately 5% of Caucasians are heterozygous carriers of the FV Leiden mutation. They encounter a 5 to 10 times higher risk of having venous thrombosis, whereas homozygous carriers have a 50 to 100 times higher risk compared to non-carriers. Individuals with additional risk factors, like the presence of other thrombophilic mutations, obesity, hypertension, type 2 diabetes, smoking or intake of oral contraceptives, are even more predisposed to venous thrombotic events.

  1. RealFast™ 2x Genotyping Mix
  2. FV Leiden Assay Mix
  3. FV WT-Control
  4. FV MUT-Control

The RealFast™ 2x Genotyping Mix comprises HotStart Taq DNA polymerase and dNTPs in an optimized buffer system. The FV Leiden Assay Mix consists of F5 gene-specific primers and two allele-specific, dual-labeled hydrolysis probes. Controls representing wild type (WT-Control) and homozygous mutant (MUT-Control) genotypes are supplied with the kit.

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