Mutation Leiden in the factor V gene and in the factor II gene (mut.20210G-A)

• The material for testing is blood.
• The patient does not need to fast. It is recommended to drink a glass of water approximately 30 minutes before the examination.

are the Factor V Leiden mutation (APC resistance) and the Factor II 20210G>A mutation in the prothrombin gene. Deep and superficial vein thrombosis, as well as thromboembolism of the brain, lungs, and coronary vessels, are the most common causes of death in developed Western countries. The disease is determined by the combined presence of appropriate risk factors: intrinsic (genetic) and extrinsic (acquired). More than half of all thromboembolic cases are caused by genetic factors, especially if the disease occurs before the age of 45 and proceeds without any discernible external factors.

Indications:

In vitro determination of point mutations in the factor V gene (factor V Leiden, 1691G>A) and/or factor II

(prothrombin; 20210G>A) in human genomic DNA:

-to assess genetic predisposition to thrombosis in patients with suspected disease or a family history of recurrent miscarriages of unknown cause,

-biochemically confirmed resistance to activated protein C (APC resistance),

-protein C or S deficiency,

-in women before starting oral contraceptives (especially smokers, with a family history of thrombophilia)

-and before starting hormone replacement therapy in postmenopausal women.