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Eur J Hum Genet. 2014 Feb;22(2):160-70. doi: 10.1038/ejhg.2013.125. Epub 2013 Aug 14.

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Author information

1
Molecular Genetics of Rare Disorders, University Hospital of Montpellier and INSERM U827, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France.
2
First Faculty of Medicine, Charles University in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic.
3
Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium.
4
Department of Paediatrics, Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland.
5
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
6
Hannover Medical School, Institute of Human Genetics, Hannover, Germany.
7
VSOP-National Patient Alliance for Rare and Genetic Disorders, Soest, The Netherlands.
8
Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia.
9
Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
10
Division 3 Health/Forensics, Deutsche Akkreditierungsstelle GmbH (DAkkS), Office Frankfurt am Main, Germany.
11
Department of Medical Genetics, University of Pavia, Pavia, Italy.
12
CEQA/UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
13
National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

Abstract

Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

PMID:
23942201
PMCID:
PMC3895644
DOI:
10.1038/ejhg.2013.125
[Indexed for MEDLINE]
Free PMC Article

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