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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10284133" target="_blank" >RIV/00216208:11110/14:10284133 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1038/ejhg.2013.125" target="_blank" >http://dx.doi.org/10.1038/ejhg.2013.125</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ejhg.2013.125" target="_blank" >10.1038/ejhg.2013.125</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 basedon 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 assistanceon report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

Název v anglickém jazyce

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

Popis výsledku anglicky

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 basedon 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 assistanceon report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

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Svazek periodika

22

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

11

Strana od-do

160-170

Kód UT WoS článku

000330415800005

EID výsledku v databázi Scopus

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