Thrombophilia Panel 3

This panel is for individuals with a personal or family history of venous thromboembolism (VTE), recurrent miscarriage, or unexplained clotting at a young age, where an inherited thrombophilia is suspected. It uses polymerase chain reaction (PCR) and hybridisation techniques to detect common genetic variants that predispose to excessive clot formation. Identifying these variants helps your doctor assess your baseline thrombotic risk and tailor preventive strategies, particularly around surgery, pregnancy, or hormonal therapy.

Coagulation Factor Variants
- Factor II (G20210A): the prothrombin gene variant linked to elevated prothrombin levels and increased clotting tendency
- Factor V (G1691A, also known as Factor V Leiden): the most common inherited thrombophilia, causing resistance to activated protein C
- Factor V (R2 H1299A): a secondary Factor V haplotype that can further modify clot risk when combined with other variants

Methylation and Fibrinolysis Variants
- MTHFR (C677T, A1298C): variants affecting homocysteine metabolism, which may contribute to endothelial dysfunction and thrombotic risk
- PAI-1: a polymorphism influencing plasminogen activator inhibitor-1 levels, potentially reducing the body's ability to break down clots
- Factor XII (V34L): a common variant that may have a mild protective or modifying effect on clot formation

Endothelial Protein C Receptor Variants
- EPCR (A1, A3): haplotypes affecting the protein C anticoagulant pathway, which may influence thrombotic tendency

Why it matters
Knowing your inherited thrombophilia profile allows for personalised risk management. If a significant variant is found, your doctor can discuss targeted precautions such as avoiding combined oral contraceptives, using prophylactic anticoagulation during high-risk periods, or arranging enhanced monitoring in pregnancy. For many people, a negative result provides reassurance that a genetic cause is unlikely, guiding the search for acquired or lifestyle-related factors.