Thrombophilic Mutation Testing

Information

Thrombophilic mutation testing is a genetic test that identifies the presence of genetic factors causing increased blood clotting. Higher blood clotting carries a greater risk of blood clots forming, which in extreme cases can block blood vessels or cause pulmonary embolism. In addition to genetic predisposition, blood clotting is also influenced by external factors such as physical activity, body weight, smoking, and the use of hormonal contraception. During pregnancy, increased blood clotting poses a particular risk for women, as it can potentially lead to the formation of blood clots in the placenta.

When to get tested

Thrombophilic mutations are hereditary and can be inherited from one or both parents. Testing is strongly recommended if you are aware of confirmed thrombophilic mutations in your parents, or if you or a blood relative have experienced deep vein thrombosis, pulmonary embolism, stroke, or a heart attack at a younger age.

Thrombophilic mutation testing is also advisable if you are having difficulty conceiving or have experienced complications during pregnancy. Specifically, if you and your partner have been unable to conceive, if you have had recurrent miscarriages, or if any of the following complications have occurred during a pregnancy: premature placental abruption, placental infarction, pre-eclampsia, foetal growth restriction, or foetal death in utero.

Staying safe with contraception

Hormonal contraception increases blood clotting. In general, the risk of thrombosis is moderate, approximately 2 to 4 times higher than in women not using hormonal contraception, and under normal circumstances its use is considered safe. However, if you have an inherited predisposition to increased blood clotting, using hormonal contraception may expose you to up to fifty times the risk of serious complications.

What the examination involves

During a consultation, your gynaecologist will review your medical history and determine whether genetic testing is appropriate for you. A blood sample is then taken and sent to the laboratory for analysis. We test for thrombophilic mutations in the F5 and F2 genes, which affect the composition and function of two proteins (Factor V and Factor II) that play a significant role in the blood clotting process. These mutations are known as the Leiden mutation (FV Leiden) and the prothrombin gene mutation (FII prothrombin). The presence of a mutation indicates an increased inherited predisposition to blood clotting, and certain preventive measures will need to be introduced. It is estimated that 5 to 10% of the Czech population carry the FV Leiden mutation, and 1 to 2% carry the FII prothrombin mutation.