A review of laboratory considerations in thrombophilia testing

Abstract

Venous thromboembolism is a multifactorial disease with interacting genetic and acquired predisposing factors. Thrombophilia screening is utilised in specific individuals when the test result is likely to influence management decisions, rather than universal screening in all patients with thrombosis. When thrombophilia testing is undertaken, the results must be considered in the context of pre-analytical, analytical and post-analytical variables to minimise misinterpretation. Clinical indications for thrombophilia testing have been covered elsewhere, and the focus of this review will be the laboratory considerations in thrombophilia testing, highlighting potential interferences when investigating for factor V Leiden, prothrombin gene mutation, protein C deficiency, protein S deficiency, antithrombin deficiency and antiphospholipid antibodies.

Keywords: Thrombophilia; laboratory testing; thrombosis; venous thromboembolism.