Thrombophilia Genetic Testing

This genetic test analyses inherited variants associated with an increased tendency to abnormal blood clotting (thrombophilia). The base panel covers the two most clinically important variants — Factor V Leiden and the prothrombin G20210A mutation — and an extended panel adds the MTHFR variant. The test is performed from a blood sample and is often requested before hormonal therapy, in pregnancy planning, or after a personal or family history of thrombosis.

Hereditary thrombophilia describes inherited genetic variants that increase the tendency of the blood to form clots. The two most established and clinically significant variants are Factor V Leiden (a mutation in the F5 gene that makes clotting factor V resistant to normal inactivation) and the prothrombin G20210A variant (in the F2 gene, associated with higher prothrombin levels). Carrying one or both of these variants is associated with an increased risk of venous thromboembolism. The laboratory's base panel tests for these two variants from a single blood sample. An extended panel additionally assesses a variant in the MTHFR gene, which influences folate metabolism and homocysteine levels and is sometimes evaluated as part of a wider thrombophilia and reproductive work-up. Knowing thrombophilia status helps inform decisions around situations that further raise clotting risk — combined hormonal contraception or hormone therapy, pregnancy, major surgery, or prolonged immobility — and is commonly requested after a personal or family history of deep vein thrombosis, pulmonary embolism, or recurrent pregnancy loss. Results are interpreted by a clinician in the context of personal and family history; the test reports carrier status rather than providing a standalone diagnosis.