Multiplex PCR for the Detection of the Factor V Leiden and Prothrombin 20210A Mutations

An extensive published literature now exists on the role of heritable thrombophilia in adult thromboembolic disease (1 ). Activated protein C resistance (APCR) secondary to the factor V (FV) Leiden mutation is a relatively common genetic defect, occurring in 2–15% of Caucasian populations and 20–50% of adults with a first episode of venous thromboembolism (2 ). Similarly, the PT20210A mutation, which results in increased levels of prothrombin, has a prevalence of approx 2% in the normal population and 6% in unselected adults with venous thrombosis (3 ).