Thrombophilia is defined as an increased risk or tendency to develop blood clots as a consequence of predisposing factors that may be inherited or acquired. A thrombus may form in either the venous or arterial vascular system. Venous thrombophilia is usually related to an abnormality of the coagulation system and may result in deep venous thrombosis (DVT) or pulmonary embolism (PE).
Historically, laboratory analysis for thrombophilia has consisted primarily of detecting deficiencies of Antithrombin, Protein C and Protein S, and testing for dysfibrinogenemia and antiphospholid antibodies/lupus anticoagulants.
In the last decade it has been shown that venous thromboembolism is a complex pathology that is reliant upon the interaction of both acquired and genetic factors. In this regard, FII and FV Leiden mutations play an important role in the pathogenesis of DVT in combination with acquired factors such as age.
Xpert® FII & FV is a qualitative genotyping test for the rapid detection of Factor II (FII) and Factor V (FV) alleles. Performed on the Cepheid GeneXpert System, the test is intended to provide rapid results for FII (G20210A) and FV Leiden (G1691A) mutations as an aid in the diagnosis of suspected thrombophilia.
Molecular lab in a cartridge: DNA Extraction, amplification and detection in one cartridge
24/7 availability: Run daily, or on-demand, with a simplified workflow
Proven accuracy: Multi-site study verified over 1,000 patient samples with results comparable to those obtained with bi-directional sequencing
On-demand: 30 minute FII and FV genotyping