Thrombophilia Panel 2

The Thrombophilia Panel 2 is a targeted genetic screen for inherited mutations that increase the tendency to form abnormal blood clots (thrombophilia). It is suited to individuals with a personal or family history of venous thromboembolism, recurrent miscarriage, or unexplained clotting at a young age, as well as those preparing for surgery or hormonal therapy who need clarity on their inherited risk. The panel uses polymerase chain reaction (PCR) and hybridisation techniques to detect specific DNA variants in four key genes involved in coagulation and clot regulation.

Coagulation Factor Variants
- Factor II (G20210A): the prothrombin gene variant that raises circulating prothrombin levels and increases clot risk.
- Factor V (Leiden G1691A): the most common inherited thrombophilia, causing resistance to activated protein C and a heightened clotting tendency.

Clotting Regulation and Platelet Adhesion
- MTHFR (C677T): a common variant affecting folate metabolism and homocysteine regulation, which can influence vascular and clotting risk.
- GP1a: a platelet glycoprotein receptor variant that may affect platelet adhesion and contribute to thrombotic tendency.

Why it matters
Identifying these inherited variants helps you and your clinician understand your baseline clot risk, guiding informed decisions about contraception, pregnancy, surgery, and targeted monitoring. Early knowledge supports preventive strategies and personalised care for you and potentially your family members.

Coagulation Factor Variants
- Factor II (G20210A)
- Factor V (Leiden G1691A)

Clotting Regulation and Platelet Adhesion
- MTHFR (C677T)
- GP1a

Referral required