Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
نویسندگان
چکیده
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.
منابع مشابه
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.
PURPOSE New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases. METHODS We developed an investigational disposable digital microfluidic cartridge that uses a si...
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References 1. Carpenter KH, Wiley V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta 2002;322:1–10. 2. Carreiro-Lewandowski E. Newborn screening: an overview. Clin Lab Sci 2002;15:229–30. 3. Jones PM, Bennett MJ. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta 2002;...
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BACKGROUND Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase to screen for Pompe and Fabry disorders. The results were compared with those obtained ...
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BACKGROUND Clinical differentiation among mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis II and III is difficult. We describe methods for the assay of 8 lysosomal enzymes in dried blood spots on filter paper that allow screening for 12 lysosomal storage diseases that present with a Hurler-like phenotype. METHODS To test tubes containing 3-mm blood spots, we added elution liquid ...
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ورودعنوان ژورنال:
- Molecular genetics and metabolism
دوره 109 2 شماره
صفحات -
تاریخ انتشار 2013