Your browser doesn't support javascript.
loading
Recommendations for reporting results of diagnostic genomic testing.
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.
Afiliación
  • Deans ZC; GenQA, Laboratory Medicine, Royal Infirmary of Edinburgh, Little France Crescent, Edinburgh, EH16 4SA, UK. sandi.deans@ed.ac.uk.
  • Ahn JW; Cambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Carreira IM; University of Coimbra, Faculty of Medicine, Cytogenetics and Genomics Laboratory, iCBR/CIMAGO, Center for Innovative Biomedicine and Biotechnology, Coimbra, Portugal.
  • Dequeker E; University of Leuven, Department of Public Health and Primary Care, Biomedical Quality Assurance Research Unit, Leuven, Belgium.
  • Henderson M; ERNDIM, Biochemical Genetics, Specialist Laboratory Medicine, St James University Hospital, Leeds, UK.
  • Lovrecic L; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Tabiner M; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Treacy R; GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Headley Way, Oxford, OX3 9DU, United Kingdom.
  • van Asperen CJ; GenQA, Laboratory Medicine, Royal Infirmary of Edinburgh, Little France Crescent, Edinburgh, EH16 4SA, UK.
Eur J Hum Genet ; 30(9): 1011-1016, 2022 09.
Article en En | MEDLINE | ID: mdl-35361922
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Genómica Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Genómica Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article