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The ThromboNet System enables diagnosis and management of thrombosis associated with congenital predisposing risk factors. Factor II (Prothrombin) and Factor V (Leiden) are proteins involved in the blood coagulation cascade. Methylenetetrahydrofolate Reductase (MTHFR) converts homocysteine to methionine as part of the pathway that coverts 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate. Vitamin K Epoxide Reductase subunit 1 (VKORC1) is inhibited by warfarin, to exert its anticoagulant effect.
CLINICAL IMPLICATIONS. Inherited thrombosis is characterized by increased risk of venous thrombo-embolism (VTE), deep vein thrombosis (DVT), ectopic pregnancy, pulmonary embolism (PE), myocardial infarction (MI), cardiovascular disease and other complications related to abnormal blood coagulation. Patients with inherited thrombosis are treated with oral anti-coagulant medications such as warfarin (Coumadin®) and the newer drugs dabigatran(Predaxa®) and rivaroxaban(Xarelto®). Patients with MTHFR deficiency should be considered for folate supplementation.
Factor V, Factor II, MTHFR and VKORC1 testing should be considered in patients with any type of venous thrombosis (hepatic, mesenteric, cerebral and recurrent), with a strong family history of thrombotic disease, pregnant women with venous thrombosis, women with history of pregnancy difficulties such as miscarriages, placental abruption, intrauterine fetal growth retardation or still birth, or women taking oral contraceptives and female smokers with myocardial infarction.
MOLECULAR BASIS. The ThromboNet System detects the following 5 mutations: