Details

Autor(en) / Beteiligte

• Deans, Zandra C
• Ahn, Joo Wook
• Carreira, Isabel M
• Dequeker, Elisabeth
• Henderson, Mick
• Lovrecic, Luca
• Õunap, Katrin
• Tabiner, Melody
• Treacy, Rebecca
• van Asperen, Christi J

Titel

Recommendations for reporting results of diagnostic genomic testing

Ist Teil von

• European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1011-1016

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2022

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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.