Factor V Leiden (F5L)

The factor V gene (F5) is located on chromosome 1q23, spans more than 80kb and contains 25 exons (OMIM #612309).

The factor V Leiden polymorphism occurs in exon 10 where there is a G>A substitution which results in an amino acid substitution of arginine at position 506 by glutamine. Prevalence varies between populations, but is common in Europe at 5-13%. The factor V Leiden polymorphism results in a slower inactivation rate of activated factor V by activated protein C and it is associated with 5-10x increased risk of venous thrombosis in heterozygotes and a 50-80x increase in homozygotes.

As a consequence of the high frequency and high level of thrombosis risk, testing for factor V Leiden is one of the most frequent genotyping tests performed in clinical laboratories.

1st International Genetic Reference Panel for Factor V Leiden Genotyping

The panel consists of 3 human genomic DNA samples: wild-type Factor V, Factor V Leiden Heterozygote, Factor V Leiden Homozygote. Samples are presented as approximately 10 μg freeze dried genomic DNA in glass ampoules.

The collaborative validation study data indicates that these materials are suitable for use in PCR-RFLP, melt curve, allele-specific PCR and Taqman-based detection.

Reference

Gray E. et al. (2006). Establishment of the 1st International Genetic Reference Panel for Factor V Leiden. Thromb Haemost. 96:215-9.

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For scientific enquiries contact the team at grmteam@nibsc.org.