[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.
Authors
- Benqing Wu (ORCID: https://orcid.org/0000-0001-5015-8074)
- Lihong Jiang (ORCID: https://orcid.org/0000-0002-5759-2903)
- Zhengyan Zhao
Institutions
- ShenZhen People’s Hospital (CN)
- Shenzhen Bao'an District People's Hospital (CN)
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