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

• Prif Awduron: Toby Chun Hei Chan (Awdur), Chloe Miu Mak (Awdur), Matthew Chun Wing Yeung (Awdur), Eric Chun-Yiu Law (Awdur), Jana Cheung (Awdur), Tsz Ki Wong (Awdur), Vincent Wing-Sang Cheng (Awdur), Jacky Kwan Ho Lee (Awdur), Jimmy Chi Lap Wong (Awdur), Cheuk Wing Fung (Awdur), Kiran Moti Belaramani (Awdur), Anne Mei Kwun Kwok (Awdur), Kwok Yeung Tsang (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2024-03-01T00:00:00Z.
• Pynciau: article
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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...