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

Result code in 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>

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

—

Volume of the periodical

22

Issue of the periodical within the volume

2

Country of publishing house

GB - UNITED KINGDOM

Number of pages

11

Pages from-to

160-170

UT code for WoS article

000330415800005

EID of the result in the Scopus database

—