Factor V Leiden (R506Q) and Prothrombin (G20210A)

General Information

Please note both EDTA and Citrate samples are acceptable for this assay. If this is part of a full thrombophilia screen please ensure citrate samples are filled correctly to the fill line indicted on the tube.

Factor V Leiden (R506Q) c.1691G>A (p.Arg506Gln): Activated protein C resistance has been attributed to a single point mutation in the gene that codes for the clotting factor protein Factor V, and termed R506Q-Factor V Leiden. This polymorphism involves a single base pair substitution at position 1691 in the factor V gene, resulting in substitution of the arginine (R) at position 506 by glutamine (Q). The mutation results in an increased risk of thrombosis. Exposure to certain environmental risk factors, such as surgery, pregnancy, or oral contraceptives, can further increase the risk for a venous thrombotic event.

Prothrombin Gene (G20210A)c.*97G>A: Prothrombin is the precursor to thrombin, which plays a central role in thrombosis, haemostasis and fibrinolysis. A mutation in the prothrombin gene, a single G to A transition at position 20210, causes an increase in prothrombin and is associated with an increased risk of venous thrombo-embolism.

Link to molecular pages