Thrombophilia Genetic Panel

IFCOR's Thrombophilia Genetic Panel is a comprehensive coagulation and genetics screen for people at elevated risk of inherited blood-clotting disorders. It combines haematological coagulation markers (CBC, prothrombin time, aPTT, fibrinogen, D-dimers, antithrombin) with molecular PCR testing for the five most clinically significant thrombophilia mutations: Factor V Leiden, Prothrombin gene G20210A, Factor XIII, MTHFR C677T, MTHFR A1298C, and PAI-1 4G/5G. Unlike coagulation function tests alone, genetic testing identifies permanent inherited risk that does not normalise with treatment — enabling lifelong risk-aware decisions about anticoagulation, hormonal contraception, pregnancy management, and surgery. Informed consent is required. Results are available within two weeks.

Thrombophilia — a hereditary or acquired tendency toward abnormal blood clotting — is an important predisposing factor for deep vein thrombosis, pulmonary embolism, stroke, recurrent miscarriage, and placental insufficiency. IFCOR's comprehensive panel tests both the functional coagulation system and the genetic variants most strongly associated with inherited thrombophilia risk. The functional coagulation markers included are: CBC for platelet count and haematological status; prothrombin test (PT/INR and ratio) for the extrinsic coagulation pathway; activated partial thromboplastin time (aPTT and ratio) for the intrinsic pathway; fibrinogen for clot formation capacity; D-dimers for fibrin degradation products indicating active clotting activity; and antithrombin III for the primary physiological anticoagulant level. These haematological markers establish the current functional state of the coagulation system. The molecular genetic panel then identifies five permanent hereditary risk factors. Factor V Leiden (c.1691G>A) is the most common inherited thrombophilia in European populations (approximately 5% carrier frequency), causing activated protein C resistance and a 3–8-fold increased DVT risk in heterozygotes. Prothrombin G20210A gene variant increases prothrombin levels and DVT risk 2–3-fold; approximately 2–3% of Europeans carry it. MTHFR C677T and A1298C variants impair folate metabolism, potentially raising homocysteine levels, which is independently associated with thrombotic and cardiovascular risk — though the direct causal link to thrombosis remains a topic of ongoing research. Factor XIII V34L variant affects clot cross-linking structure. PAI-1 4G/5G polymorphism affects fibrinolysis (clot dissolution) capacity. Identifying these variants informs decisions about hormonal contraception (which increases clotting risk and is contraindicated with some thrombophilias), pregnancy anticoagulation planning, and prophylaxis around surgery. Informed consent is required for all genetic testing. Results arrive within 2 weeks.