The assay covers 2 mutations
FV (G1691A), PTH (G20210A)
Venous thrombosis is among the three most common cardiovascular diseases, affecting about 1 in 1000 individuals each year. Thrombotic risk is determined both by circumstancial factors (age, surgery, pregnancy, oral contraception), as well as by genetic predisposition. While the majority of known genetic defects within the blood coagulation cascade (protein S, protein C, antithrombin III) is rare, a G>A mutation at nucleotide position 1691 in the gene for coagulation factor V (FV Leiden) is found at high frequency (20- 60%) in thrombosis patients. A further common point mutation in the 3´-untranslated region of the prothrombin (factor II) gene (20210: G>A) has been reported to be associated with elevated plasma prothrombin levels and is estimated to increase the risk for venous thrombosis by 3 to 5-fold.