Factor V Leiden
Factor V Leiden (FV)
Whole blood or buccal swabs
5 mL of whole blood or four buccal swabs
3 mL of whole blood or four buccal swabs
Lavender-stopper (EDTA) tube or paper envelope for dried buccal swabs
Maintain at room temperature or refrigerate
Cause for Rejection
Hemolyzed specimen; quantity not sufficient
General Purpose and 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 10-20 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.
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