Therapeutic area: thrombophilia

Factor V

General Use: 

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.

Limitations: 

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.

Methodology: 

Real-time polymerase chain reaction with fluorescence detection.

Analytes Detected: 

1691G>A