Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening

Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening

BackgroundTandem mass spectrometry (MS/MS) is a crucial technique for detecting inborn errors of metabolism (IEM) in newborns. However, the high false positive rate poses challenges in diagnosing specific types of diseases. Therefore, this study aimed to evaluate the role of targeted next-generation...

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Bibliographic Details
Main Authors: Guihua Lai, Qiying Gu, Zhiyong Lai, Haijun Chen, Xiangwen Tu, Junkun Chen, Jungao Huang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Public Health
Subjects:
genetic diagnosis
inborn errors of metabolism
newborn screening
targeted sequencing
tandem mass spectrometry
Online Access:https://www.frontiersin.org/articles/10.3389/fpubh.2024.1461141/full
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