Abstract
Deep vein thrombosis is a common medical condition and investigation of clotting status or thrombophilia is a common task in the medical laboratory. Differential diagnosis is based on the clinical features and a combination of clotting function, biochemical, and genetic tests. Therefore, investigation of thrombophilia represents a good example of the role of molecular genetic testing in laboratory medicine. The aim of the present review is to outline the current state of the art in investigating thrombophilia with particular reference to molecular genetic testing. One cause of thrombophilia that is often overlooked is the presence of antiphospholipid antibodies, so this topic also receives particular attention.
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