Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

Abstract excerpt

Background 21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges. Moreover, there are no comparative studies on detecting CYP21A2 mutations by both second-generation sequencing and long-read sequencing (LRS, also known as third-generation...