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

• The test material is blood.
• The patient does not need to be fasting.About 30 minutes before the test it is advisable to drink a glass of water.

are the factor V Leiden mutation (APC resistance) and the factor II mutation 20210G>A in the prothrombin gene. Deep vein thrombosis and superficial vein thrombosis, as well as cerebral, pulmonary and coronary thromboembolism, are the most common causes of death in developed Western countries. The disease is conditioned by the combined presence of relevant risk factors: intrinsic (genetic) and extrinsic (acquired). More than half of all thromboembolic cases are caused by genetic factors. This is especially true if the disease occurs before the age of 45 and progresses without any noticeable contribution from external factors.

Indications:

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

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

-to assess genetic predisposition to thrombosis in patients with suspected disease or 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 in smokers, with a family history of thrombophilia)

-and before starting hormone replacement therapy in postmenopausal women.