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eNOS Gene, T786C Polymorphism

Includes 1 test
Blood, Other
3 Days
100€

Molecular screening for the T786C polymorphism of the endothelial nitric oxide synthase (eNOS) gene is performed to assess the risk of thrombosis in asymptomatic patients with a severe familial history or in patients who have already had a thrombotic thrombus.

Nitric oxide (NO) plays an important role in maintaining basic vascular tone. NO is a muscle relaxant for smooth muscles and inhibits platelet adhesion, activation, and aggregation. A deficiency in NO synthesis can be a predisposing factor for coronary artery disease, angina, and myocardial infarction. The endothelium-derived NO is synthesized from the amino acid L-arginine by the enzyme endothelial nitric oxide synthase (eNOS). This enzyme is encoded by the NOS3 gene located on chromosome 7. The presence of the T786C polymorphism in the 5' region of the NOS3 gene causes a significant decrease in gene activity. This results in the reduced synthesis of the enzyme endothelial nitric oxide synthase and consequently reduced nitrogen monoxide synthesis, which poses a greater risk for coronary artery disease. In addition, it has been found that T786C polymorphism is a risk factor for the occurrence of preeclampsia during pregnancy.

Thrombophilia is an acquired or congenital disorder associated with thrombosis. The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, which is manifested as deep vein thrombosis, pulmonary embolism, or superficial vein thrombosis. Other events associated with thrombophilia include recurrent miscarriages (pregnancy loss) and complications of pregnancy such as severe preeclampsia, placental abruption, and fetal intrauterine 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 for other diseases, malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen, and raloxifene and certain drugs used for the treatment of infertility).

 

 

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Additional information
Tests includedIncludes 1 test
Sample Blood, Other
Procedure completion test
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Step 2

Sampling

Visit the certified laboratory of Diagnostiki Athinon on the date and time you have chosen, to perform the sampling.

Step 3

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.

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