Genetic testing

Personalized medicine is the quintessential use of molecular biology tools in genetic diagnosis. It is based on the belief that many disease entities have a genetic basis, which can significantly affect the correct diagnosis of patients as well as the initiation of appropriate therapy. The application of molecular diagnostic methods in genetic testing and the use of modern testing equipment makes it possible to determine with high probability in the tested patient the determination of the risk of disease, to determine the hereditary genetic burden, and allows the development and introduction of appropriate methods of prevention or dedicated methods of treatment of a given disease entity.

CONGENITAL THROMBOPHILIA:

What is thrombophilia?

Thrombophilia, also known as hypercoagulability, is a congenital (genetically determined) or acquired tendency to develop clots in veins and arteries. It is estimated that about one-third of thromboembolic events are caused by a genetic predisposition in the patient. One of the most common causes of congenital thrombophilias is the G20210A mutation in the F2 gene encoding prothrombin and the Leiden mutation in the F5 gene encoding coagulation factor V.

For what purpose is a genetic test performed?

This test is performed to determine whether a patient carries the hereditary G20210A mutation in the gene encoding prothorombin and the Leiden mutation in the F5 gene encoding coagulation factor V. These are the most common mutations associated with congenital hypercoagulability.

For whom is a genetic test recommended?

• Young people (under 50 years of age) who have had thrombosis and/or embolism of unknown etiology or location (such as in the liver, brain or blood vessels of the eye)
• People with a family history – the presence of thrombosis among close relatives before the age of 50 or the detection among them of a mutation in the factor gene. in the liver, brain or blood vessels of the eye)
• Persons with a family history of thrombosis – the presence of thrombosis among close relatives before the age of 50 or the detection of a mutation in the factor II or V gene among them
• Children affected by arterial thrombosis
• Persons with recurrent cases of venous or arterial thrombosis
• Women affected by cases of repeat fetal miscarriage
• Women using or planning to use hormonal contraception or hormone replacement therapy