Toward point-of-care testing for JAK2 V617F mutation on a microchip

摘要: Molecular genetics now plays a crucial role in diagnosis, the identification of prognostic markers, and monitoring hematological malignancies. Demonstration acquired changes such as JAK2 V617F mutation within myeloproliferative neoplasms (MPN) has quickly moved from research setting to diagnostic laboratory. Microfluidics-based assays can reduce assay time sample/reagent consumption enhance reaction efficiency; however, no current integrated isothermal amplification for point-of-care MPN testing with microchip. In this report, an microchip that performs whole human blood genomic DNA extraction, loop-mediated nucleic acid (LAMP) visual detection genetic is demonstrated. This method was validated on cell lines well patients MPN. The results were compared those obtained by unlabeled probe melting curve analysis. chip enjoys high accuracy, operability, cost/time efficiency 1h. All these benefits provide potency toward samples identified positive analysis (n=27) proved when tested assay. None 30 negative controls gave false results. addition, patient polycythemia vera diagnosed being V617F-negative found be would possibly very attractive developing platform quick preliminary diagnosis or other severe illness resource-limited settings.