Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS) of six conditions for inborn errors of metab...

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Auteurs principaux:	Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang
Format:	Artigo
Langue:	Inglês
Publié:	MDPI AG 2024-03-01
Collection:	International Journal of Neonatal Screening
Sujets:	newborn screening next-generation sequencing second-tier test citrullinemia dried blood spot
Accès en ligne:	https://www.mdpi.com/2409-515X/10/1/19
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