Thrombophilia Panel 5

This panel is designed for individuals with a personal or family history of venous thromboembolism, recurrent miscarriage, or unexplained clotting events, and for those who wish to understand their inherited predisposition to thrombosis. It uses polymerase chain reaction (PCR) and hybridisation-based genotyping to detect well-established genetic variants that influence blood coagulation, clot breakdown, and lipid metabolism. Each variant is analysed from a single blood sample collected by a trained phlebotomist.

The panel examines the following groups of markers:

Coagulation Factor Variants
- Factor II (G20210A): the prothrombin gene variant linked to elevated prothrombin levels and increased thrombosis risk.
- Factor V (G1691A, also known as Factor V Leiden): the most common inherited cause of activated protein C resistance.
- Factor V (R2 H1299A): a secondary haplotype that may further modify clotting risk.
- Factor XII (V34L): a common polymorphism affecting fibrin formation and clot stability.
- Fibrinogen-beta (FGB): variants influencing fibrinogen concentration and clot structure.
- GPIIIa (integrin beta-3): a platelet glycoprotein variant that can affect platelet aggregation.

Clotting Regulation and Fibrinolysis
- PAI-1 (plasminogen activator inhibitor-1): a key regulator of clot breakdown; elevated levels are associated with impaired fibrinolysis.
- MTHFR (C677T, A1298C): variants affecting homocysteine metabolism, which can influence endothelial health and clotting tendency.

Lipid and Vascular Risk Modifiers
- ApoB (apolipoprotein B): a marker of atherogenic particle number.
- ApoE (apolipoprotein E): influences lipid clearance and cardiovascular risk.
- ACE (angiotensin-converting enzyme): a variant linked to vascular tone and thrombotic tendency.

Why it matters
Identifying these inherited variants helps you and your clinician understand your personal thrombophilia profile. This knowledge can guide decisions about risk factor management, targeted screening of family members, and preventive strategies during periods of increased risk such as surgery, pregnancy, or prolonged immobility. It supports a proactive, personalised approach to reducing the chance of a first or recurrent thrombotic event.