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

Autor:	Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	dried blood spot (dbs) inborn errors of metabolism (iem) newborn screening (nbs) next generation sequencing (ngs) second-tier test Medical technology R855-855.5
Zdroj:	Journal of Laboratory Medicine, Vol 45, Iss 6, Pp 267-274 (2021)
Druh dokumentu:	article
ISSN:	2567-9430 2567-9449
DOI:	10.1515/labmed-2021-0115
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f Zobrazit plný text záznamu View record in DOAJ