Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing

Liu, Yingdi; Chen, Miaomiao; Liu, Jing; Mao, Aiping; Teng, Yanling; Yan, Huiming; Zhu, Huimin; Li, Zhuo; Liang, Desheng; Wu, Lingqian

doi:10.1093/clinchem/hvac046

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing

Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that has been included in newborn screening programs. Current approaches to gene testing for CAH are facing challenges because of the complexity of the CYP21A2 locus and genetic heterogeneity of the disease. Method…