Home » Clinical » Genetic Disorder » FVL (R506Q) Mutation Detection kit
Factor V Leiden (FVL) thrombophiliais a genetic disorder mostly found in 20-25% of patients suffering from venous thromboembolism (VTE). It is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk of venous thromboembolism. The term “factor V Leiden” refers to the specific G-to-A substitution at nucleotide 1691 in the gene for factor V that predicts a single amino acid replacement (R506Q) at one of three APC cleavage sites in the factor Va molecule.
The diagnosis of factor V Leiden thrombophilia is suspected in individuals with a history of venous thromboembolism (VTE) [deep vein thrombosis (DVT) or pulmonary embolism], especially in women with a history of VTE during pregnancy or in association with oral contraceptive use, and families with a high incidence of VTE.