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

• Main Authors: Toby Chun Hei Chan (Author), Chloe Miu Mak (Author), Matthew Chun Wing Yeung (Author), Eric Chun-Yiu Law (Author), Jana Cheung (Author), Tsz Ki Wong (Author), Vincent Wing-Sang Cheng (Author), Jacky Kwan Ho Lee (Author), Jimmy Chi Lap Wong (Author), Cheuk Wing Fung (Author), Kiran Moti Belaramani (Author), Anne Mei Kwun Kwok (Author), Kwok Yeung Tsang (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...