Title: Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
Authors: Claustres, Mireille ×
Kožich, Viktor
Dequeker, Els
Fowler, Brain
Hehir-Kwa, Jayne Y
Miller, Konstantin
Oosterwijk, Cor
Peterlin, Borut
van Ravenswaaij-Arts, Conny
Zimmermann, Uwe
Zuffardi, Orsetta
Hastings, Ros J
Barton, David E #
Issue Date: Feb-2014
Publisher: Karger
Series Title: European Journal of Human Genetics vol:22 issue:2 pages:160-170
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.European Journal of Human Genetics advance online publication, 14 August 2013; doi:10.1038/ejhg.2013.125.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Biomedical Quality Assurance Research Unit
× corresponding author
# (joint) last author

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