Our Factor II-V & MTHFR Panel is a qualitative in vitro test that detects genotypes of Factor II, Factor V and MTHFR. It is indicated for use as an aid to diagnose patients with suspected thrombophilia. This assay is performed using genomic DNA isolated from human peripheral whole blood specimens.
The most common variant associated with inherited thrombosis is Factor V Leiden G1691A variant. This variant results in resistance to activated protein C. The second most common variant associated with hereditary thrombosis is the G20210A variant in the prothrombin (Factor II) gene. This is associated with increased plasma prothrombin levels.
Increased plasma homocysteine levels is another important risk factor for venous thrombosis. An important genetic variant in the MTHFR gene is C677T the product of which is a thermolabile enzyme and decreased production of folate, a cofactor required for homocysteine remethylation. The MTHFR A1298C variant is also associated with increased homocysteine and lowered plasma folate levels when present in combination with the C677T mutation.
Our test detects the above described variants in each of Factor II, Factor V and MTHFR genes.