Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease-related genes. The pilot study was primarily propo...

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Bibliographic Details
Main Authors: Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu
Format: Article
Language:English
Published: De Gruyter 2021-12-01
Series:Journal of Laboratory Medicine
Subjects:
dried blood spot (dbs)
inborn errors of metabolism (iem)
newborn screening (nbs)
next generation sequencing (ngs)
second-tier test
Online Access:https://doi.org/10.1515/labmed-2021-0115

Internet

https://doi.org/10.1515/labmed-2021-0115

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