Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China

Long-read sequencing (LRS) provides comprehensive genetic information, but research of LRS applied to congenital adrenal hyperplasia (CAH) newborn screening is limited. This study aimed to evaluate the clinical utility of LRS in genetic diagnosis and second-tier newborn screening. Neonates born betw...

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Bibliographic Details
Main Authors: Xudong Wang, Xingxiu Lu, Faming Zheng, Kun Lin, Minjuan Liao, Yi Dong, Tiantian Chen, Ying He, Mei Lu, Jing Chen, Yanfang Li, Yulin Zhou
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:International Journal of Neonatal Screening
Subjects:
congenital adrenal hyperplasia
long-read sequencing
newborn screening
second-tier screening
combined screening strategy
Online Access:https://www.mdpi.com/2409-515X/11/1/22
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