Detection of the following SNPs and their corresponding normal alleles:
Factor V Leiden, Factor V R2, Prothrombin/Factor II, MTHFR C677T, MTHFR A1298C and corresponding wildtype alleles, PAI-1/SERPINE1 4G and 5G
Thrombophilia is an abnormality of blood coagulation, leading to increased risk for thrombosis. Thrombophilia can be identified in 50% of people who have an episode of thrombosis that was not provoked by other causes. Venous thrombosis is one of the most common thrombotic disorders affecting up to 2 in 1000 individuals every year and is associated with life-threatening conditions such as pulmonary embolism.
Genetic risk factors for Thrombophilia
The predisposition to form blood clots can arise from mutations, acquired changes in the clotting mechanism or, more commonly, an interaction between genetic and acquired factors. The risk of thrombosis increases with the number of genetic and acquired risk factors present so that individuals with multiple risk factors are at greater risk than those with just a few.