This laboratory offers genetic testing for the most common mutations that cause an increased risk of abnormal blood clotting. These mutations occur in the F2, F5 and MTHFR genes. Many individuals, who have one or more of the 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.
Other diagnostic tests for thrombophilia risk include coagulation-screening tests such as the APC resistance assay to detect mutations in the Factor V protein. A blood sample analysis of homocysteine levels is another useful test that can indicate a mutation in the MTHFR gene.
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Gatt A, Makris M. Hyperhomocysteinemia and venous thrombosis (2007). Semin Hematol. 44(2): 70-6.