Factor V Mutation Detection (Leiden)

Venous thromboembolism is a serious medical problem causing considerable suffering and occasional death. Thrombosis is often familial, suggesting genetic risk factors to be involved. A poor anticoagulant response to activated protein C (APC) has been observed in about 20-30% of patients with an idiopathic predisposition to thrombosis, which has been linked to Factor V. In most cases, APC resistance is caused by a single point mutation in the Factor V gene, resulting in an Arg506 to Gln (R506Q) amino acid substitution.