Molecular Diagnostics in Hemostatic Disorders

The use of molecular diagnostic techniques in clinical and research hemostasis laboratories is increasing as genetic factors that affect the procoagulant and anticoagulant systems are identified. Many of these molecular alterations are associated with thrombotic tendencies, whereas others tip the hemostatic balance in favor of bleeding. In either scenario, molecular testing may serve as a primary diagnostic modality or may provide information that complements clot-based “functional” assays. The clinical application of DNA-based testing continues to expand since the discoveries of the factor V Leiden and prothrombin G20210A gene mutations. Indications for genetic testing continue to evolve as the underlying causes of hemostatic disorders are better understood. Further development of molecular assays depends on their proved utility in the clinical management and treatment of these complex multifactorial disorders.