Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia

Wencui Wang,Rulai Han,Zuwei Yang,Sichang Zheng,Haorong Li,Zhihan Wan,Yan Qi,Shouyue Sun,Lei Ye,Guang Ning

The Journal of Steroid Biochemistry and Molecular Biology（2021）

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摘要

•We developed a targeted NGS assay of CAH candidate genes including CYP21A2.•This assay plus MLPA of CYP21A2 achieved successful genotyping in 98.5 % CAH patients.•125 variants in eight genes were identified and 24.8 % were firstly described.•The assay efficiently diagnosed CAH patients with rare and non-classic forms.

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CAH,NGS,SNV,Indel,Del/conv,21OHD,PCR,MLPA,17OHP,11OHD,17OHD,FT,AD,Aldo,PRA,UFC,ACTH,DHEAs,SHBG,LH,FSH,E2,P,T,pDNA,gDNA,ACMG,IGV,BAM,SBP

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