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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

2 Jul 2020

Abstract excerpt

Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH...

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PMID: 32616876
DOI: 10.1038/s41431-020-0653-5

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