Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency
CNVplex and SNaPshot appear to be highly efficient and reliable techniques for use in a molecular diagnosis laboratory, and combined with direct sequencing based on locus-specific PCR, they might constitute a definitive way to detect almost all common and rare 21-OHD-related alleles.
Authors
- Ying Bai (ORCID: https://orcid.org/0000-0001-7532-5932)
- Xiangdong Kong (ORCID: https://orcid.org/0000-0003-4322-914X)
- Panlai Shi (ORCID: https://orcid.org/0000-0001-5826-1340)
- Lili Jiang (ORCID: https://orcid.org/0000-0002-0359-0873)
- Yanjie Xia (ORCID: https://orcid.org/0000-0002-7449-3982)
- Zhengwen Jiang (ORCID: https://orcid.org/0000-0002-6219-3026)
- Feng Yu
Institutions
- Genesys (United States) (US)
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-10-28
- DOI
- https://doi.org/10.1186/s13023-024-03414-4
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Henan Province