About: Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)     Goto   Sponge   NotDistinct   Permalink

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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.
  • 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. (en)
Title
  • Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
  • Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) (en)
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  • Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
  • Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) (en)
skos:notation
  • RIV/00216208:11110/14:10284133!RIV15-MSM-11110___
http://linked.open...avai/riv/aktivita
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  • 41615
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  • RIV/00216208:11110/14:10284133
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  • performance; quality (en)
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  • GB - Spojené království Velké Británie a Severního Irska
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  • [D3C462E9D4A1]
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  • European Journal of Human Genetics
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  • 22
http://linked.open...iv/tvurceVysledku
  • Kožich, Viktor
  • Hehir-Kwa, Jayne Y.
  • Claustres, Mireille
  • Dequeker, Els
  • Bartoň, David E.
  • Fowler, Brain
  • Hastings, Ros J.
  • Miller, Konstantin
  • Oosterwijk, Cor
  • Peterlin, Borut
  • Zimmermann, Uwe
  • Zuffardi, Orsetta
  • van Ravenswaaij-Arts, Conny
http://linked.open...ain/vavai/riv/wos
  • 000330415800005
issn
  • 1018-4813
number of pages
http://bibframe.org/vocab/doi
  • 10.1038/ejhg.2013.125
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  • 11110
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