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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Sista, RS; Wang, T; Wu, N; Graham, C; Eckhardt, A; Bali, D; Millington, DS; Pamula, VK

Published Date

  • June 2013

Published In

Volume / Issue

  • 109 / 2

Start / End Page

  • 218 - 220

PubMed ID

  • 23578771

Pubmed Central ID

  • PMC3926749

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2013.03.010


  • eng

Conference Location

  • United States