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Blood coagulation, factor V Leiden and 20210G-A

Thrombophilias are hereditary and/or acquired conditions that predispose the individual to suffer thrombosis or blood clots. The term hereditary thrombophilia has been generally applied to pathologies in which a genetic mutation affects the amount or function of a protein in the coagulation system. The most studied mutations include factor V Leiden or rs6025 mutation and prothrombin gene 20210A-G mutation or PGM, and those altering the antithrombin 3 (AT3 or SERPINC1), protein C (PROC), protein S (PROS1) genes.

Hypercoagulability or thrombophilias are multifactorial conditions that can have a different etiology. In addition to the potential genetic contribution, several factors may be considered to assess properly the individual thrombophilia risk. Acquired thrombophilia can be due to specific diseases as e.g. myeloproliferative neoplasms and deficiencies in the natural coagulants. Certain drug treatments (oral contraceptives, hormone treatments, and chemotherapy) and other factors as smoking, obesity, and pregnancy can also increase the thrombosis risk and should be considered.

People more prone to blood hypercoagulation are at greater risk of developing deep venous thrombosis (DVT) that is characterized by a tendency to clot formation in leg veins. Although clots mainly are formed in the legs, they can be produced in other body parts as lungs leading to pulmonary embolism. Venous thrombosis is the main term that includes DVT and pulmonary embolism and its incidence is estimated in 1-2 per 1000 individuals every year, being the third most common cardiovascular disease.

Gene or region studied

  • F5
  • F2
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