External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions.

ABSTRACT:

Objectives

Hereditary hearing loss is one of the most common birth defects in humans. Genetic screen in pregnant women and newborns could provide prenatal intervention or guidance on the early diagnosis and treatment. Currently, this screen has been widely applied; however, its accuracy and reliability have not been determined. The objective of this pioneering study was to evaluate the performance of clinical laboratories in Shanghai and other regions for their ability to analyze the genetic variants related with hearing loss.

Methods

The EQA program were carried out twice a year. We generated a sample panel consisting of five dry blood spots with genomic DNA from different cell lines with normal whole blood as the matrix. The panel included four samples with nine different

SUBMITTER: Bao Y 

PROVIDER: S-EPMC12270815 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature