Factor V Leiden Mutation
4 mL of blood in a lavender (purple-top) tube (EDTA)
- Ambient: 3 days
- Refrigerated: 7 days
This test is used to detect factor V Leiden mutation, which is a risk factor for thrombosis.
Polymerase chain reaction with sequence specific primers (PCR-SSP), combined with agarose gel electrophoresis
Within 10 days
Negative for the Factor V Leiden R506Q mutation
Monday - Friday
The “mutation” is actually a common polymorphism in the Factor V gene that replaces a critical arginine with a glutamine at position 506 of the protein (FV R506Q). This removes a cleavage site for activated protein C. Approximately 5% of Caucasians is heterozygous for the R506Q polymorphism. Heterozygous FV R506Q carriers have a 4-fold risk increase for venous thromboembolism. Homozygotes have an 80-fold increased risk.