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

@article{BaumgartnerParzer2020EMQNBP,
  title={EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency},
  author={Sabina Baumgartner-Parzer and Martina Witsch-Baumgartner and Wolfgang Hoeppner},
  journal={European Journal of Human Genetics},
  year={2020},
  volume={28},
  pages={1341 - 1367}
}
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 (due to 21-OH deficiency). The interest was great and over the last years at about 60… 
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
Current challenges in the diagnosis of nonclassical 21-hydroxylase deficiency (21-OHd), including the reasons that justify screening for this disorder, the clinical situations in which such screening is required, recent advances in the methods used in different settings, and the consequences that might arise from a diagnosis of 21- OHd NCAH are reviewed.
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