Coagulation Factors DNA Test

Find out if you carry a genetic risk for coagulation disorder

Coagulation disorder can cause formation of blood clots that may block blood vessels. The risk is much higher if you have genetic predisposition to blood clots. Coagulation disorder is a condition caused by a complex interaction of genetic predisposition and environmental risk factors. About 5% of population in Croatia have inherited increased tendency to form blood clots. The chance of developing thrombosis increases with age and is more common after surgeries and injuries. Women are at the highest risk, but the disorder affects both sexes and all age groups.


Who should be tested?


During pregnancy and after delivery there is up to four times increased risk for developing blood clots. Women with genetic predisposition to blood clots need to be under constant medical supervision during pregnancy and, if necessary, take medications to prevent blood clots. Every woman who is planning to get pregnant or is pregnant should be tested.


Taking hormonal contraceptives increases the risk of blood clots by approximately 5 times and this risk is about 32 times higher among women with genetic predisposition. Women with genetic predisposition should avoid hormonal contraceptives.


Hormone therapy used in assisted human reproduction may increase the risk of blood clots. Because of this women should check if they carry genetic risk for coagulation disorder before they undergo assisted reproduction therapies.


Blood clotting disorder can negatively affect the function of the placenta and consequently lead to loss of pregnancy. Coagulation disorder can be found among 50% of women suffering from miscarriage. Early detection of this disorder is very important for women so that a proper treatment could be received and pregnancy carried to term.


Testing for inherited thrombophilia is recommended for people with family history of deep venous thrombosis of the lower extremity, pulmonary embolism, inflammation of superficial veins or idiopathic recurrent thrombosis.


If genetic test result indicates genetic predisposition then this information can be helpful for making a decision about changing lifestyle habits (weight loss, exercise, smoking cessation) to reduce the risk of blood clots.


Prolonged sitting with the legs hanging down, such as during travel (e.g. airplane travel), is a risk among healthy people as well. Before travel, treatment may be recommended for individuals with coagulation disorder.


How should testing be done?

Genetic testing can help ensure early diagnosis and treatment of a blood clot. Awareness of genetic predisposition may give opportunity to a person to make lifestyle changes and to start with appropriate medical therapy that can reduce the risk of thrombosis. Positive results of genetic testing can provide other family members (because they are potentially also at risk) with useful information in addition to the person who is tested.

Analysis of DNA by pyrosequencing, and it can be done solely in the laboratory of Genos company currently in Croatia, make it possible to determine the presence of genetic predisposition to clot formation. This genetic test analyses genes involved in blood clotting (Factor V, Prothrombin, MTHFR, PAI-1 and Factor XIII).


How the test is performed?

DNA testing is performed using oral swab sample. Collecting the DNA sample is completely painless and should take only 10-15 seconds to complete.


Understanding genetic risk

Genetic changes (also called mutations) in clotting factors, like factor V and factor II (prothrombin), are the most common, inherited, predisposing factors for developing blood clots. The factor V Leiden mutation is present in 5% to 7% of the general white population and prothrombin mutation in 2% to 3%. All of these conditions are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that only one gene mutation is required to have an increased risk, and there is 50% chance that the mutation will be present in first-degree relatives (parents, brothers, sisters and children). In almost all cases, this means that if a person has a positive test for an inherited blood clotting disorder, at least one of his/her parents will also be positive. Nevertheless, having genetic predisposition does not mean that a person will definitely have a blood clot or related condition (which may include recurrent pregnancy loss). However, it is particularly important for those individuals to avoid controllable risk factors that, along with genetic predisposition, may cause development of a blood clot.

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