Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

ABSTRACT:

Objective

Easy tool for newborn screening of Gaucher and Hurler diseases.

Methods

Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gaucher (n = 10) and Hurler (n = 7) dried blood spot samples.

Results

Enzymatic activity analysis of glucocerebrosidase (Gaucher) and α-l-iduronidase (Hurler) revealed similar discrimination between normal and affected samples on both platforms.

Conclusions

Digital microfluidics is suitable for Gaucher and Hurler newborn screening.

SUBMITTER: Sista RS 

PROVIDER: S-EPMC3926749 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature