Genetic testing of the coagulation factor II gene G20210A (prothrombin) is performed to assess the risk of thrombosis in asymptomatic patients with a familial history or in patients who have already experienced a thromboembolic episode.
Prothrombin, or otherwise factor II, is a key enzyme in hemostasis and thrombosis. Recently, a point mutation (replacement of guanine by adenosine at nucleotide position 20210) has been discovered and is associated with deep vein thrombosis. Heterozygous carriers of the mutation have a 3 times higher risk of thrombosis, while this relative risk is being investigated for homozygous mutants.
This mutation is the second most common cause of hereditary thrombophilia, and in the Caucasian race, it is 1-2%.
Thrombophilia is an acquired or congenital disorder associated with thrombosis. The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, manifested as deep vein thrombosis, pulmonary embolism, or superficial vein thrombosis. Other events associated with thrombophilia include prolonged (recurrent) miscarriages and complications of pregnancy, such as severe preeclampsia, placental abruption, and fetal endometrial death. The demographic and environmental characteristics that contribute to the risk of venous thromboembolism in people predisposed to thrombophilia include old age, gender (more commonly in men), obesity, surgery, trauma, hospitalization, malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen and raloxifene) and certain drugs used to treat hypoglycemia equality.
Important Note
Laboratory test results are the most critical parameter for diagnosing and monitoring all pathological conditions. Between 70 to 80% of diagnostic decisions are based on laboratory tests. Correctly interpreting laboratory results allows a doctor to distinguish "healthy" from "diseased."
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be analyzed based on each case and family history, clinical findings, and the results of other laboratory tests and information. Your physician should explain the importance of your test results.
At Diagnostiki Athinon, we answer any questions you may have about the test you perform in our laboratory and contact your doctor to ensure you receive the best possible medical care.
