Kit for multiplex detection of the variants G20210A at Prothrombin (FII) gene, G1691A at Factor V, A1298C and C677T at MTHFR gene, -675 PAI-1 4G/5G at SERPINE1 gene and rs5985 (Val34Leu) at the F13A1 gene.
Information about the product
Thrombophilia refers to the predisposition to form blood clots, caused by an underlying hypercoagulation state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis.
The G20210A mutation in the prothrombin gene (FII) has been associated with an increased risk of thrombosis. Furthermore, it is well documented that another missense mutation, the G1691A mutation in the gene that encodes for the coagulation Factor V (known as FV Leiden or FVL) is also associated with an increased risk of thrombophilia and venous thrombosis.
Since the discovery of these variants, other conditions predisposing patients with thromboembolic disorders have been described. These prothrombotic risk factors primarily include qualitative or quantitative defects of endogenous coagulation factor inhibitors, increased concentration or function of coagulation proteins, defects in the fibrinolytic system, impaired platelet function, and hyperhomocysteinemia.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of elevated plasma homocysteine levels. Certain variants in the MTHFR gene can lead to an enzyme that is not fully active and, consequently, to elevated homocysteine levels. The best-characterized MTHFR gene polymorphisms are C677T and A1298C.
Other hereditary factors most studied in the predisposition to thrombophilia include plasminogen activator inhibitor-1 (PAI-1)