F5 (Factor V) Leiden Gene Mutation Analysis

The factor V Leiden mutation, also designated as 1691 G>A or R506Q, is the major heritable risk factor for venous thromboembolism 1,2. This mutation in the coagulation factor V gene results in resistance of factor V to inactivation by activated protein C (APC)3-5. Approximately 5% of Caucasians are either heterozygous carriers or homozygous for the factor V Leiden mutation; the prevalences are lower for other ethnic groups 6,7.

Specimen Requirements - Molecular Genetics