Description

Venous thromboembolism (VTE) is a multifactorial condition caused by a combination of genetic and environmental factors. The Factor V Leiden (FVL) variant is the most common cause of inherited VTEs, accounting for over 90 percent of activated protein C (APC) resistance. Because the FVL variant eliminates the APC cleavage site, factor V is inactivated slower, thus persisting longer in blood circulation, leading to more thrombin production. Other genetic risk factors for VTE include, male sex and variants in antithrombin, protein C, protein S, or factor XIII.

c.1601G>A (p.Arg534Gln). Legacy nomenclature: R506Q (1691G>A).

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Polymerase chain reaction (PCR)

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