What is Thrombophilia?
Thrombophilia is a condition where the blood has an increased tendency to form clots. A blood clot within a vein is known as a venous thrombus and the most common form is deep vein thrombosis, which usually occurs in a deep vein of the leg.
If this blood clot breaks loose and travels to the lungs, it is known as a pulmonary embolus and can be very dangerous.
This test detects variants in the F2 and F5 genes, which are associated with thrombophilia risk. An upgrade option (DNA Thrombotic Risk Test) is also available which includes two risk variants in the MTHFR gene.
The most common inherited variant associated with thrombophilia is the factor V Leiden mutation. This mutation occurs in the F5 gene, which encodes factor V, a protein that promotes blood clotting. The factor V Leiden mutation is associated with an 8X increased risk in heterozygotes (single copy of the mutation), and up to an 80X increased risk in homozygotes (two copies of the mutation).
Prothrombin is another factor necessary for clotting. Increased prothrombin levels occur in individuals with the prothrombin G20210A mutation in the F2 (prothrombin) gene. The prothrombin G20210A mutation is associated with a 2X to 3X increased risk in heterozygotes (single copy of the mutation), and up to a 20X increased risk in homozygotes (two copies of the mutation).
Many individuals, who have one or more of these mutations, do not develop thrombophilia, but the test is still very useful for patients to understand their own risks and make any necessary health and lifestyle changes (e.g. increasing physical activity) to help avoid abnormal blood clotting problems.
Reducing the Risk of a Blood Clot
- Maintain a healthy body weight
- Follow a healthy diet
- Increase your blood flow with exercise
- Avoid extended periods of immobility
- Avoid smoking
- Reduce homocysteine levels by getting plenty of folate and other B vitamins
- Wear compression stocking on long flights
- If your risk is very high, seek medical treatment (e.g. anticoagulants)
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.