Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spo...

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Detalles Bibliográficos
Autores principales: Camargo, Eurico, Schulte, Jaqueline, Pereira, Jamile, Bravo, Heydy, Sampaio-Filho, Claudio, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2018
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082237/
https://www.ncbi.nlm.nih.gov/pubmed/29870571
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0227
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author Camargo, Eurico
Schulte, Jaqueline
Pereira, Jamile
Bravo, Heydy
Sampaio-Filho, Claudio
Giugliani, Roberto
author_facet Camargo, Eurico
Schulte, Jaqueline
Pereira, Jamile
Bravo, Heydy
Sampaio-Filho, Claudio
Giugliani, Roberto
author_sort Camargo, Eurico
collection PubMed
description We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory.
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spelling pubmed-60822372018-08-17 Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil Camargo, Eurico Schulte, Jaqueline Pereira, Jamile Bravo, Heydy Sampaio-Filho, Claudio Giugliani, Roberto Genet Mol Biol Human and Medical Genetics We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory. Sociedade Brasileira de Genética 2018-06-04 2018 /pmc/articles/PMC6082237/ /pubmed/29870571 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0227 Text en Copyright © 2018, Sociedade Brasileira de Genética. https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Human and Medical Genetics
Camargo, Eurico
Schulte, Jaqueline
Pereira, Jamile
Bravo, Heydy
Sampaio-Filho, Claudio
Giugliani, Roberto
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_full Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_fullStr Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_full_unstemmed Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_short Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_sort neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: initial results in brazil
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082237/
https://www.ncbi.nlm.nih.gov/pubmed/29870571
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0227
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