lunes, 20 de mayo de 2013

Multiplex newborn screening for Pompe, Fabry,... [Clin Chim Acta. 2013] - PubMed - NCBI

Multiplex newborn screening for Pompe, Fabry,... [Clin Chim Acta. 2013] - PubMed - NCBI


Clin Chim Acta. 2013 May 7. pii: S0009-8981(13)00195-2. doi: 10.1016/j.cca.2013.05.001. [Epub ahead of print]


Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.





Source


Advanced Liquid Logic, Inc., P.O. Box 14025, Research Triangle Park, NC 27709, USA.



Abstract




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 single dried blood spot (DBS) punch for performing a 5-plex fluorometric enzymatic assay on up to 44 DBS samples. Precision and linearity of the assays were determined by analyzing quality control DBS samples; clinical performance was determined by analyzing 600 presumed normal and known affected samples (12 for Pompe, 7 for Fabry and 10 each for Hunter, Gaucher and Hurler).


RESULTS:


Overall coefficient of variation (CV) values between cartridges, days, instruments, and operators ranged from 2 to 21%; linearity correlation coefficients were ≥0.98 for all assays. The multiplex enzymatic assay performed from a single DBS punch was able to discriminate presumed normal from known affected samples for 5 LSDs.


CONCLUSIONS:


Digital microfluidic technology shows potential for rapid, high-throughput screening for 5 LSDs in a newborn screening laboratory environment. Sample preparation to enzymatic activity on each cartridge is less than 3h.
Copyright © 2013. Published by Elsevier B.V.



PMID:

23660237
[PubMed - as supplied by publisher]

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