| HRA010630
(Controlled Access)
|
The complexity of CYP21A2 locus has hindered the application of genetic newborn screening (NBS) for congenital adrenal hyperplasia (CAH) by short-read sequencing. This prospective study aims to report the feasibility of incorporating long-read sequencing (LRS) to current first-tier biochemical NBS for both classic CAH and non-classic CAH (NCCAH).Our findings demonstrate the effectiveness of targeted LRS-based genetic NBS for CAH, providing a comprehensive landscape of CYP21A2 locus. First-tier CAH genetic screening offers an additional method to decrease the false positive rate, shorten the overall diagnosis time, and enable screening for NCCAH. |
