Molecular Genetic Testing
Prothrombin Mutation / Deep-Vein Thrombosis

Indication and Diagnostic Value

A single mutation in the gene for the clotting factor II (Prothrombin), designated as 20210G>A, leads to an increase of the plasma prothrombin level. Patients carrying this mutation have a 3 fold increased risk for developing deep vein thrombosis. In young women smoking may lead to an up to 6 fold increased rate of infarction. The frequency of cerebral venous thrombosis is 10 fold higher in gene carriers as compared to patients not carrying the mutation. In addition, contraceptive agents further increase this risk by a factor of 120. Patients carrying both, the Factor V Leiden, and the Prothrombin Mutation (almost 40% of all tested persons) have the highest risk of disease. Therefore, in patients with a family background for venous thrombosis, estimation of both mutations is strongly recommended.

Samples and Test Method

IMMD blood stain paper should be sent to our laboratory. PCR followed by enzymatic cleavage unambiguously detects the 20210G>A base exchange in the prothrombin gene.

Turnaround time for this test is 10 days.

→ list of Molecular Genetic Tests offered by IMMD


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