Article
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.
The Journal of molecular diagnostics : JMD - 1 Sept 2024
Yuan Dejian, Cai Ren, Mao Aiping, Tan Jianqiang, Zhong Qingyan, Zeng Dingyuan, Tang Ning, Wei Xiaobao, Huang Jun, Zhang Yu, Chen Dayu, Yang Jinling, Li Yuanxiu, Zheng Xiudan, Li Jiaqi, Li Danhua, Yan Tizhen
Abstract excerpt
Genetic analysis of congenital adrenal hyperplasia (CAH) has been challenging because of high homology between CYP21A2 and its pseudogene CYP21A1P. This study aimed to evaluate the clinical utility of long-read sequencing (LRS) in diagnosis of CAH attributable to 21-hydroxylase deficiency by comparing with multiplex ligation-dependent probe amplification plus Sanger sequencing. In this retrospective study, 69...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.