Precision Diagnosis of Wilson Disease Using a MultiGene Panel
Our comprehensive multigene NGS panel enables precise diagnosis of WD by detecting both classical and unconventional pathogenic variants, as well as distinguishing phenocopies. This improved diagnostic accuracy underscores the value of early genetic testing to guide timely intervention, especially in atypical or early-stage cases.
Authors
- Youliang Wang (ORCID: https://orcid.org/0000-0002-2613-3616)
- Yujie Lin (ORCID: https://orcid.org/0000-0002-2146-0626)
- Yaofeng Fang
- Ying Ding (ORCID: https://orcid.org/0000-0002-3830-9690)
- Chen Wan-jin
- Wenjun Lin (ORCID: https://orcid.org/0000-0003-3952-3100)
- Yan Qu (ORCID: https://orcid.org/0000-0003-1166-055X)
- Naiqing Cai
- Senwei Dong
- Rukai Chen
- Jie Lin
- Zhiqiang Wang
- Jian Chen
- Ning Wang
Institutions
- Fujian Medical University (CN)
- Zhangzhou Municipal Hospital of Fujian Province (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
- Hanzhong People's Hospital (CN)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-03-03
- DOI
- https://doi.org/10.1212/nxg.0000000000200360
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00