Molecular Genetic Testing
Factor V Leiden - Mutation (Inherited Predisposition to Thrombosis)

Indication and Diagnostic Value

Presence of Factor V Leiden mutation is strongly correlated with APC-resistence. In 95% of all cases mutation carriers do not respond to the activated form of Protein C and, therefore, tend to increased blood clotting. In heterozygous carriers venous coagulation is 5-10 fold increased. Women who take contraceptive agents carry a 50fold increased risk. In homozygous cases the risk is 50-100 fold higher compared to women carrying the wild type allele.
The prevalence of the Factor V mutation among patients with venous thrombosis amounts to 20-60%.
As the mutation is associated with an autosomal dominant disorder, it is strongly recommended to include in the diagnosis first-degree family members.
After the first appearance of thrombosis, mutation carriers have to undergo a therapeutic treatment. However, it is not recommended to use prophylactic measures for non-symptomatic carriers.

Samples and Test Method

IMMD blood stain test paper is required.
By using PCR and restiction fragment analysis the test unambiguously identifies homo – and heterozygous G→A transitions in the Factor V gene that will lead to an amino acid exchange of Arg to Glu. The specificity of the diagnosis reaches almost 100%.

Turnaround time for this test is 10 days.

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