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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Autores principales:	Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2021
Materias:	dried blood spot (dbs) inborn errors of metabolism (iem) newborn screening (nbs) next generation sequencing (ngs) second-tier test Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f
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spelling	oai:doaj.org-article:c03a73c6d0dc48728b055e558ab12c4f2021-12-05T14:10:52ZValidation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism2567-94302567-944910.1515/labmed-2021-0115https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f2021-12-01T00:00:00Zhttps://doi.org/10.1515/labmed-2021-0115https://doaj.org/toc/2567-9430https://doaj.org/toc/2567-9449Next 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 proposed for second-tier testing under the NBSIEM program in Hong Kong.Tsang Kwok YeungChan Toby Chun HeiYeung Matthew Chun WingWong Tsz KiLau Wan TingMak Chloe MiuDe Gruyterarticledried blood spot (dbs)inborn errors of metabolism (iem)newborn screening (nbs)next generation sequencing (ngs)second-tier testMedical technologyR855-855.5ENJournal of Laboratory Medicine, Vol 45, Iss 6, Pp 267-274 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	dried blood spot (dbs) inborn errors of metabolism (iem) newborn screening (nbs) next generation sequencing (ngs) second-tier test Medical technology R855-855.5
spellingShingle	dried blood spot (dbs) inborn errors of metabolism (iem) newborn screening (nbs) next generation sequencing (ngs) second-tier test Medical technology R855-855.5 Tsang Kwok Yeung Chan Toby Chun Hei Yeung Matthew Chun Wing Wong Tsz Ki Lau Wan Ting Mak Chloe Miu Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
description	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 proposed for second-tier testing under the NBSIEM program in Hong Kong.
format	article
author	Tsang Kwok Yeung Chan Toby Chun Hei Yeung Matthew Chun Wing Wong Tsz Ki Lau Wan Ting Mak Chloe Miu
author_facet	Tsang Kwok Yeung Chan Toby Chun Hei Yeung Matthew Chun Wing Wong Tsz Ki Lau Wan Ting Mak Chloe Miu
author_sort	Tsang Kwok Yeung
title	Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
title_short	Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
title_full	Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
title_fullStr	Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
title_full_unstemmed	Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
title_sort	validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f
work_keys_str_mv	AT tsangkwokyeung validationofampliconbasednextgenerationsequencingpanelforsecondtiertestinnewbornscreeningforinbornerrorsofmetabolism AT chantobychunhei validationofampliconbasednextgenerationsequencingpanelforsecondtiertestinnewbornscreeningforinbornerrorsofmetabolism AT yeungmatthewchunwing validationofampliconbasednextgenerationsequencingpanelforsecondtiertestinnewbornscreeningforinbornerrorsofmetabolism AT wongtszki validationofampliconbasednextgenerationsequencingpanelforsecondtiertestinnewbornscreeningforinbornerrorsofmetabolism AT lauwanting validationofampliconbasednextgenerationsequencingpanelforsecondtiertestinnewbornscreeningforinbornerrorsofmetabolism AT makchloemiu validationofampliconbasednextgenerationsequencingpanelforsecondtiertestinnewbornscreeningforinbornerrorsofmetabolism
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Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

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