Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay
The FP-PCR/CE assay is a rapid, accurate, and cost-effective method for FMR1 CGG repeat analysis, offering improved sensitivity for mosaicism detection. Its scalability and reliability support its potential for broader use in FXS carrier screening, clinical diagnosis and research.
Authors
- Qingyan Zhong
- Jihong Hu (ORCID: https://orcid.org/0000-0003-0391-963X)
- Shao-Qing Ni
- Hua Jin (ORCID: https://orcid.org/0000-0001-5478-4611)
- Wenhao Li (ORCID: https://orcid.org/0000-0003-0817-8500)
- Qiong Xu (ORCID: https://orcid.org/0000-0001-7062-8790)
- Minyue Dong (ORCID: https://orcid.org/0000-0002-4344-7924)
- Zhi-Wei Zhu (ORCID: https://orcid.org/0000-0002-9528-475X)
- Jianhua Mao (ORCID: https://orcid.org/0000-0002-6076-3806)
- Xin-Yi Shou
- Tizhen Yan
Institutions
- Liuzhou Maternal and Child Health Hospital (CN)
- Jinan Maternity And Care Hospital (CN)
- Children's Hospital of Zhejiang University (CN)
- Dongguan People’s Hospital (CN)
- Hunan Children's Hospital (CN)
- Women's Hospital, School of Medicine, Zhejiang University (CN)
- Shandong Maternal and Child Health Hospital (CN)
- Children's Hospital of Fudan University (CN)
- Zhejiang University of Technology (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- World Journal of Pediatrics
- Published
- 2025-09-12
- DOI
- https://doi.org/10.1007/s12519-025-00977-5
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- National Natural Science Foundation of China