This report describes the feasibility of performing a multiplex assay using digital microfluidic technology to screen for lysosomal storage disorders.
The feasibility of performing immunoassays on a digital microfluidic cartridge was demonstrated on coagulation factors associated with hypercoagulability risk.
This study was one of the first published that demonstrated feasibility of using the digital microfluidic fluorimetric assays to test enzyme activity of lysosomal storage disorders (specifically Pompe and Fabry).
In this review, Dr. Millington provides a basic overview of the digital microfluidic technology and a review of the assays relevant to newborn screening.
This seminal paper from Taiwan was the first large-scale study to show feasibility of newborn screening for the lysosomal storage disorder Pompe disease. These results formed the basis for the now widespread use of acid α-glucosidase (GAA) enzyme activity measurement for Pompe newborn screening.