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Recommendations for reporting results of diagnostic genomic testing.

Published version
Peer-reviewed

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Authors

Ahn, Joo Wook 
Carreira, Isabel M 
Dequeker, Elisabeth  ORCID logo  https://orcid.org/0000-0001-5383-3178
Henderson, Mick 

Abstract

Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to misinterpretation. As genomic testing has continued to evolve over the past decade, the European Society of Human Genetics (ESHG) recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) published in 2014 have been reviewed and updated to provide the genomic community with guidance on reporting unambiguous results.

Description

Keywords

Genetic Testing, Genomics, Humans

Journal Title

Eur J Hum Genet

Conference Name

Journal ISSN

1018-4813
1476-5438

Volume Title

30

Publisher

Springer Science and Business Media LLC