The Factor V Leiden polymorphism is the result of a single point mutation (1691 G>A) that results in substitution of a glutamine for arginine at amino acid 506. The amino acid change prohibits the inactivation of Factor V by activated protein C, thereby creating a state of activated protein C resistance (APCR) and increasing the risk of thrombosis. Individuals with this polymorphism have a 10- to 20-fold increased thrombotic risk.
Other genetic variants of the Factor V gene that are not detected in the assay may influence Factor V activity. Other genetic and non-genetic factors may also influence the balance of proper coagulation.
Real-time polymerase chain reaction with fluorescence detection.
Cardiac Health and Coagulation
We offer comprehensive cardiac health tests to search for genetic variations that could lead to adverse cardiac events, including kits specific to thrombophilia, statins, and anticoagulation therapies.