The assay covers 3 mutations:
FV (G1691A), PTH (G20210A) and MTHFR (C677T).
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. Elevated levels of plasma homocysteine (hyperhomocysteinemia) are a well established risk factor for both arterial and venous thrombosis. Hyperhomocysteinemia may be caused by nutritional deficiencies or by defects in enzymes involved in homocysteine metabolism, such as cystathionine b-synthase (CBS) and 5,10-methylenetetrahydrofolate reductase (MTHFR). Homozygosity for a point mutation (677: C>T) in the MTHFR gene leading to a thermolabile enzyme variant with reduced activity is very common in Caucasians (5-20% prevalence).