Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
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ABSTRACT:
SUBMITTER: Sista RS
PROVIDER: S-EPMC3926749 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Publications
Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
Sista Ramakrishna S RS Wang Tong T Wu Ning N Graham Carrie C Eckhardt Allen A Bali Deeksha D Millington David S DS Pamula Vamsee K VK
Molecular genetics and metabolism 20130324 2
<h4>Objective</h4>Easy tool for newborn screening of Gaucher and Hurler diseases.<h4>Methods</h4>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.<h4>Results</h4>Enzymatic activity analysis of glucocerebrosidase (Gaucher) and α-l-iduronidase (Hurler) revealed similar discrimination between normal and affected samples o ...[more]
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