Laboratory diagnosis of thrombophilia

There is no a widely accepted definition for thrombophilia. This term has been used to identify those disorders of haemostasis that are likely to predispose to thrombosis. More recently, it has been defined as a tendency to develop thrombosis as a consequence of predisposing factors that may be genetically determined, acquired, or both. The latter definition may be more useful because it includes situations that are apparently not directly linked to the haemostatic system (for example: hyperhomocysteinemia). Whatever the definition is, thrombophilia may be a secondary event to many conditions. During the last few years, thrombophilia and its risk factors have contributed substantially to increased pressure on clinical laboratories. The aim of this review is to update the situation with respect to the conditions associated with thrombophilia. We will also discuss the reasons that testing should be performed, who should be tested, when and which kind of test is to be performed and finally, the strategy to make testing cost-effective.