Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
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.
Sista, RS; Wang, T; Wu, N; Graham, C; Eckhardt, A; Bali, D; Millington, DS; Pamula, VK
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