Factor V Leiden Mutation

Methodology: 
Polymerase chain reaction with sequence specific primers (PCR-SSP), combined with agarose gel electrophoresis
Performed: 
Monday - Friday
Reported: 
Within 10 days
Use: 

This test is used to detect factor V Leiden mutation, which is a risk factor for thrombosis.

Specimen Requirements: 

4 mL of blood in a lavender (purple-top) tube (EDTA)

Stability (collection to initiation of testing):
  • Ambient: 3 days
  • Refrigerated: 7 days
Unacceptable Conditions: Frozen specimens
Reference Values: 

Negative for the Factor V Leiden R506Q mutation

Interpretation Data: 

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.

CPT Code (s): 

81241

Notes: 

UFHPL Test #: 10080

Test Directory