Methodology

Real-Time Polymerase Chain Reaction (PCR)/DNA Probe Hybridization

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Useful as an aid to diagnosis in the evaluation of patients with suspected thrombophilia. Inherited thrombophilia predispose an individual to thrombotic events such as venous thrombosis, the third most common cardiovascular disease. Activated protein C (APC) resistance is regarded as the most prevalent coagulation abnormality associated with venous thrombosis. A point mutation at position 1691 of the factor V gene, referred to as factor V Leiden mutation, causes an arginine to glutamine substitution at position 506 in the factor V protein and renders it partially resistant to inactivation by APC. Genetic analysis has demonstrated that this mutation, which has a relatively high prevalence in the general population (eg, about 5% in Caucasians), accounts for 85% to 95% of APC resistance cases.