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

Mireille Claustres, Viktor Kozich, Els Dequeker, Brain Fowler, Jayne Y. Hehir-Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny van Ravenswaaij-Arts, Uwe Zimmermann, Orsetta Zuffardi, Ros J. Hastings*, David E. Barton, ESHG Quality Comm

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

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    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.

    Original languageEnglish
    Pages (from-to)160-170
    Number of pages11
    JournalEuropean Journal of Human Genetics
    Issue number2
    Publication statusPublished - Feb-2014



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