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Factor V H1299R (HR2) Gene Mutation
Principle
Coagulation Factor V is an enzyme cofactor essential for the coagulation cascade and maintaining normal hemostatic balance. Mutations in the Factor V gene are associated with venous thrombosis and pregnancy complications, including recurrent pregnancy loss.
While the Factor V Leiden mutation is the most common variant, the His1299Arg (H1299R, HR2) polymorphism has recently been identified and linked to hereditary thrombophilia. Detection of this polymorphism provides important information for assessing thrombotic risk.
Specimen Requirements
Specimen
Whole blood
Minimum Volume
10 mL total (two 5 mL lavender-top EDTA tubes)
Handling
Deliver to the laboratory within 72 hours at room temperature
Unacceptable Specimens
- Clotted samples
- Specimens not collected in EDTA tubes
- Frozen specimens
Method
Polymerase chain reaction (PCR) with reverse hybridization.
Normal Range
Reported as:
- Normal: H/H
- Heterozygous Mutated: H/R
- Homozygous Mutated: R/R
Turnaround Time
10 business days
References
- de Visser M et al. Thromb Haemost 2000;83:577-582.
- Castaman G et al. Hematologica 2003;88:1182-1189.