Coagulation Factors DNA Test

 

Check if you have a genetic risk for the coagulation disorder

Coagulation disorders may lead to the formation of blood clots inside blood vessels, obstructing the flow of blood through the circulatory system. In case of a genetic predisposition for coagulation disorders, the risk of blood clot formation increases. Coagulation disorders are conditions caused by the interaction of genetic predispositions and environmental risk factors. About 5% of the Croatian population has an inherited increased blood clotting risk. The likelihood of developing thrombosis increases with age, and is more frequent after surgery and injuries. Women are the highest risk, but the disorder affects both sexes and all age groups.

When to test?
	Pregnacy During pregnancy and after delivery, the risk of blood clot formation increases up to 4 times. If there is a genetic predisposition for blood clotting disorder, the woman should be under constant medical supervision during pregnancy and, if necessary, take anticoagulants. Any pregnant woman or any woman planning to be pregnant should do Coagulation Factor DNA Test.
	Hormonal contraception Taking hormonal contraceptives increases the risk of developing blood clots about 5 times, and for women with a genetic predisposition the risk is increased about 32 times. Therefore, in cases of having genetic predisposition for blood clotting, the woman should avoid oral contraceptives.
	Infertility treatment Hormonal therapy used in the assisted fertilization may impact blood clotting and increase risk of blood clot formation. Therefore, in case of infertility treatment it is recommended to determine whether a woman has a genetic risk of coagulation disorder.
	Miscarriage(s) Blood clotting disorder can have negative impact on function of the placenta and consequently lead to the loss of the baby. Coagulation disorder has been detected in as many as 50% of women who had a miscarriage. Hence, detecting this disorder is important in order to receive appropriate therapy and to carry a child to term.

 

Family medical history

Testing for hereditary thrombophilia is recommended for anyone who has a family history of deep venous thrombosis of the lower extremities, pulmonary embolism, surface vein inflammation, or recurrent thrombosis of an unknown cause.

Stressful and static lifestyle, smoking and obesity

Information about having a genetic predisposition for blood clotting disorders may help to make a decision about changing lifestyle (reduce weight, exercise, stop smoking) in order to reduce the risk of blood clots formation.

Long-distance travel (particularly by plane)

Sitting still for extended periods of time can affect blood circulation (slow or stop blood flow) and therefore lead to the development of blood clots. Anyone traveling more than four hours, whether by air, car, bus, or train, can be at risk for blood clots. However, most people who develop travel-associated blood clots have one or more other risks for blood clots (genetic predisposition, previous blood clot or a family history of blood clots older age, obesity, recent surgery or injury, estrogen-containing contraceptives, hormone replacement therapy, pregnancy, active cancer or recent cancer treatment, limited mobility, varicose veins). The combination of long-distance travel with one or more of these risks may increase the likelihood of developing a blood clot. In such cases it might be advised to take adequate medication prior the trip to prevent blood clot formation.

How to get tested?

Genetic testing can help early diagnosis and treatment of blood clots. Information about genetic predisposition may be helpful in making decisions about changing lifestyle and in considering appropriate medical therapy that can temporarily reduce the risk of developing thrombosis. Genetic testing can be useful not only for the person with the disorder but also for other potentially endangered family members.

DNA analysis by pyrosequencing determines the genetic predisposition for blood clotting. Blood clotting genes (Factor V Leiden, Prothrombin, MTHFR, PAI-1 and Factor XIII) are analyzed.

How does DNA testing for coagulation factors work?

The test is performed by DNA analysis from a buccal swab sample and the test is 100% effective.
The sampling procedure is painless and it takes only 10-15 seconds.

Understanding of genetic risk

The most common hereditary factors of predisposition to blood clots formation are genetic changes (mutations) of coagulation factors, such as Factor V Leiden and Factor II (prothrombin). 5-7% white population has Factor V Leiden mutation and 2-3% has prothrombin mutation. These mutations are inherited in an autosomal dominant pattern. In other words, only one parent needs to carry the mutation for the condition to be passed on to the child. If one parent has the mutation, there’s a 50% chance it will be passed on to each child the couple has. However, having genetic predisposition for certain condition doesn’t mean that the person will indeed be affected by the disorder (blood clot which may lead to further complication e.g., miscarriage). It just means that the person has higher risk compared the person who has no mutation, but the likelihood of being affected by the disorder increases if other risk factors are present as well. It is important to note that these people should avoid risk factors that in interaction with genetic predisposition may trigger a blood clot formation.