[Clinical application of next-generation sequencing in early screening of neonatal diseases].

NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.

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Publication Details

Journal
PubMed
Published
2025-04-15
DOI
https://doi.org/10.7499/j.issn.1008-8830.2409107
Primary Topic
Genomics and Rare Diseases
Type
article
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article

[Clinical application of next-generation sequencing in early screening of neonatal diseases].

Benqing Wu, Lihong Jiang, Zhengyan Zhao
PubMed
Genomics and Rare Diseases
article

[Clinical application of next-generation sequencing in early screening of neonatal diseases].

Benqing Wu, Lihong Jiang, Zhengyan Zhao
article en

Abstract

NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.

PubMedVol. 27(4)
ShenZhen People’s Hospital (CN), Shenzhen Bao'an District People's Hospital (CN)
Genomics and Rare Diseases
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