Author/Editor		Claustres, Mireille; Peterlin, Borut
Title		Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
Type		članek
Vol. and No.		Letnik 22, št. 2
Publication year		2014
Volume		str. 160-170
ISSN		1018-4813 - European journal of human genetics : EJHG
Language		eng
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.
Keywords		diagnostic genetic testing guidelines