Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening
Targeted NGS technology can serve as a crucial diagnostic tool for neonatal genetic metabolic diseases following MS/MS screening. Additionally, we identified IEM variant hotspots and some novel variants in our region, which are the underlying causes of disease in patients with IEM.
Authors
- Haijun Chen (ORCID: https://orcid.org/0000-0003-2605-1044)
- Junkun Chen (ORCID: https://orcid.org/0000-0003-0193-238X)
- Jungao Huang (ORCID: https://orcid.org/0000-0002-3197-6044)
- Xiangwen Tu (ORCID: https://orcid.org/0009-0006-5514-066X)
- Qiying Gu
- Zhiyong Lai (ORCID: https://orcid.org/0009-0006-6638-7318)
- Guihua Lai
Institutions
- Gansu Provincial Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Frontiers in Public Health
- Published
- 2024-12-24
- DOI
- https://doi.org/10.3389/fpubh.2024.1461141
- Citations
- 3
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.14