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.

• Clotted samples
• Specimens not collected in EDTA tubes
• Frozen specimens

Polymerase chain reaction (PCR) with reverse hybridization.

Reported as:

• Normal: H/H
• Heterozygous Mutated: H/R
• Homozygous Mutated: R/R

• de Visser M et al. Thromb Haemost 2000;83:577-582.
• Castaman G et al. Hematologica 2003;88:1182-1189.

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