Recommendations for reporting results of diagnostic genomic testing
Zandra C. DeansGenQA, Laboratory Medicine, Royal Infirmary of Edinburgh, Little France Crescent, Edinburgh, EH16 4SA, UK. [email protected]Joo Wook AhnCambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UKIsabel M. CarreiraUniversity of Coimbra, Faculty of Medicine, Cytogenetics and Genomics Laboratory, iCBR/CIMAGO, Center for Innovative Biomedicine and Biotechnology, Coimbra, PortugalElisabeth DequekerUniversity of Leuven, Department of Public Health and Primary Care, Biomedical Quality Assurance Research Unit, Leuven, BelgiumMick HendersonERNDIM, Biochemical Genetics, Specialist Laboratory Medicine, St James University Hospital, Leeds, UKLuca LovrečićClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, SloveniaKatrin ÕunapDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, EstoniaMelody TabinerGenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Headley Way, Oxford, OX3 9DU, United KingdomRebecca J. L. TreacyGenQA, Laboratory Medicine, Royal Infirmary of Edinburgh, Little France Crescent, Edinburgh, EH16 4SA, UKChristi J. van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
2022en
ABI
Аннотация
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.
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