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

Radoslaw Kwapiszewski, Karina Ziolkowska & Zbigniew Brzozka
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...