A Methodologic Comparison of Invader and Autogenomics INFINITI in Factor-V Leiden and Prothrombin Gene Mutation Testing

Background: Collectively, factor V Leiden (FVL, rs6025) and prothromin gene mutation (PGM, rs1799963) are responsible for the majority of inherited thrombophilic states in Caucasians. Patients with inherited thrombophilias are at a greater risk of unprovoked venous thromboembolic events. As such, testing for these abnormalities has become standard of care in the appropriate clinical context. In this study, we compare the workflow and performance of a non-PCR based method, the Invader ® assay, and the INFINITI® assay in FVL and PGM testing. The driving factor behind the methodological comparison was the need to gain efficiency in our molecular diagnostic pipeline. If viable, the INFINITI ® platform would allow for rapid expansion of the menu of molecular diagnostic tests performed by our institution. Methods: To establish concordance between the two assays, forty four and thirty one specimens that had been previously tested with the Invader® assay for FVL and PGM, respectively, were identified.These specimens were subsequently tested on the INFINITI ® platform, and results from the two assays were compared. Results: The INFINITI® Assay produced 100% concordance with the Invader® assay in both FVL (44/44) and PGM (31/31) testing. Conclusion: These results indicate that the INFINITI ® platforms can reliably genotype FVL and PGM.