Diagnostiki Athinon no longer performs genetic testing for the protein C gene promoter polymorphisms.
Genetic testing for the protein C gene promoter polymorphisms is performed to assess the risk of thrombosis in asymptomatic patients with a severe family history or in patients who have already had a thromboembolic episode.
Protein C is an essential inhibitor of blood coagulation. Two polymorphisms (C/T at position 2405 and A/G at position 2418) are within the promoter region of the protein C gene. Studies have shown that the CC/GG genotype is associated with lower C protein levels. Therefore, patients with this genotype are at an increased risk of venous thrombosis compared to those with the TT/AA genotype.
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, etc. malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen, and raloxifene) and certain medications used to treat hypoglycemia equality).
