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Article

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Aug 2018

Luo Xiaomei, Wang Ruifang, Fan Yanjie, Gu Xuefan, Yu Yongguo

Abstract excerpt

Background Tandem mass spectrometry (MS/MS) has been used for newborn screening (NBS) of inherited metabolic diseases (IMDs) for decades. However, the traditional approach can yield false-positive or false-negative results and is affected by biochemical substrate-level fluctuations. To overcome the current limitations, we explored the possibility of using next-generation sequencing (NGS) as a second-tier...

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Identifiers

PMID: 30030962
DOI: 10.1515/jpem-2018-0088

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