Analysis index

1 ml EDTA-blood

Swab from the mucosa of the inner side of the cheek (oral mucosal cells/dry swab) and consent declaration in accordance with genetic diagnostics law

Thrombosis tendency, in case of increased incidence of venous thromboembolism in the family, in case of confirmed APC-resistance, prior to giving oral contraceptives, in case of thromboembolism, in case of habitual miscarriage.

Factor-V-mutation Leiden is detected in approximately 20 % – 25 % of patients with initial venous thrombosis and is therefore more common than all other genetic predisposition factors in total. It is passed on in an autosomal dominant way. The molecular-genetic test allows clear differentiation between the heterozygous and homozygous forms of the factor-V-mutation Leiden. In case of a factor-V-mutation of the heterozygous form, the thrombosis risk is about 4 – 8 times higher. When also taking an ovulation inhibitor + smoking, the risk increases x 30 – 80. In total figures this means:

Without factor-V-mutation 1 thrombosis per 12.500 women taking ovulation inhibitors per year, 

with factor-V-mutation 1 thrombosis per 400 women taking ovulation inhibitors  per year.

The risk of thrombosis can markedly increase with other additional risk factors such as factor-II-mutation, antiphospholipid-antibodies, anti-factor-II- antibodies, immobilization, pregnancy, systemic inflammations. Thrombosis risk is 50 – 100 times higher in patients with factor-V-mutation of the homozygous form and in approximately half of these patients, a thrombosis is to be expected.

Please also refer to section “Thrombosis, tendency for” (Indications directory)