3312. Package # 191.2 (PCR. Genetics. High risk thrombophilia)

This panel includes testing for two key genetic markers of thrombophilia: F2 (prothrombin, 20210 G>A mutation) and F5 (Factor V Leiden, 1691 G>A mutation) – the most significant genetic risk factors for venous and arterial thrombosis. The simultaneous presence of both mutations significantly increases the risk of thromboembolic complications, particularly during pregnancy and when taking oral contraceptives or hormonal medications.

Thrombophilia is a genetically determined condition characterized by a predisposition to blood clot formation due to an imbalance in the hemostatic system.

Mutations in the F2 (prothrombin) and F5 (Factor V Leiden) genes affect the synthesis of blood coagulation proteins and the response to natural anticoagulants (such as protein C), resulting in persistent activation of coagulation.

These mutations are associated with:

• deep vein thrombosis;
• pulmonary embolism (PE);
• myocardial infarction;
• ischemic stroke;
• recurrent pregnancy loss;
• complications during IVF or pregnancy (placental abruption, preeclampsia, fetal growth restriction).

• Patients with a personal or family history of thrombosis, pulmonary embolism (PE), myocardial infarction, or stroke.
• Women with recurrent pregnancy loss, preeclampsia, fetal growth restriction, or complications during IVF.
• During pregnancy planning or before starting hormonal contraceptives or hormone replacement therapy (HRT).
• Before and after surgical procedures (especially orthopedic, vascular, or oncological procedures).
• Individuals who take anticoagulants long-term or may require anticoagulant therapy.

• Venous blood

In order to exclude factors that may affect the test results, we recommend to follow the preparation rules: