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In this work, an integrated microfluidic system for biochemical diagnostics of lysosomal storage disorders is presented. The polymeric microsystem consists of a zone for hydrodynamic focusing of cell suspension, a mixing microchannel, and an optical detection module. The system was used for determination of the activity of enzymes deficient in Fabry and Gaucher diseases. On the contrary to the currently used protocols of determination of lysosomal enzymes’ activities, the microdevice enables significant reduction of the time of analysis. Moreover, the experimental set enables to avoid termination of enzymatic reaction and sample dilution, what increases sensitivity of the developed method. Due to easy fabrication steps and their low cost, the system seems to be a prospective tool for a point-of-care approach.

7.1.2 A novel tool for biochemical diagnostics of rare genetic disorders: an integrated microfluidic system with optical detection