What molecular diagnostic test is used to detect mutations associated with increased risk for thrombosis?

The test used to detect mutations associated with increased risk for thrombosis is the Factor V Leiden mutation test. This test specifically identifies a variant of the factor V gene that leads to a resistance to activated protein C, which is a crucial regulator of blood coagulation. Individuals who carry this mutation have a higher risk of developing venous thromboembolism, which can result in conditions like deep vein thrombosis (DVT) and pulmonary embolism.

In contrast, other tests listed, such as the Factor VIII test, measure levels of factor VIII in the blood but are not directly concerned with genetic mutations related to thrombosis risk. The Prothrombin test assesses the function of the prothrombin protein in the coagulation pathway but also does not specifically identify genetic mutations. The Thrombin time test evaluates the time it takes for a clot to form in the presence of thrombin but does not reveal specific genetic predispositions to thrombosis. Therefore, the Factor V Leiden mutation test stands out as the most relevant molecular diagnostic tool for identifying genetic risks associated with thrombosis.