Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

EJHG (July 2020:

In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH (due to 21-OH deficiency). The interest was great and over the last years at about 60 laboratories from Europe, USA and Australia regularly participated in that scheme. These best practice guidelines were drafted on the basis of the extensive knowledge and experience got from those annually organized CAH-schemes. In order to obtain the widest possible consultation with practicing laboratories the draft was therefore circulated twice by EMQN to all laboratories participating in the EQA-scheme for CAH genotyping and was updated by that input.

Download document

Please complete the form below and the document will arrive in your inbox shortly. 

Please contact us if you encounter any issues.

*All fields are mandatory.

Your submission was successful. Thank you.

If you haven’t received anything within a few minutes, please check your spam folder.  Please contact us if you encounter any issues.