Medical Action Ontology

Last uploaded: July 29, 2024
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Preferred Name

molecular genetic testing
Synonyms
Definitions

A diverse set of techniques used to identify the molecular basis of genetic disease. Examples of molecular genetic tests include: genotyping to detect specific pathogenic variants; sequencing of a gene to detect pathogenic variants; amplification or hybridization methods (e.g., qPCR, array CGH, MLPA) to detect copy number variants involving one or more genes; methylation-specific techniques to detect epigenetic changes that influence gene expression; and exome and genome sequencing.
ID

http://purl.obolibrary.org/obo/MAXO_0000533
creator

http://orcid.org/0000-0001-7941-2961
date

2020-03-18T19:19:07Z
definition

A diverse set of techniques used to identify the molecular basis of genetic disease. Examples of molecular genetic tests include: genotyping to detect specific pathogenic variants; sequencing of a gene to detect pathogenic variants; amplification or hybridization methods (e.g., qPCR, array CGH, MLPA) to detect copy number variants involving one or more genes; methylation-specific techniques to detect epigenetic changes that influence gene expression; and exome and genome sequencing.
label

molecular genetic testing
prefixIRI

MAXO:0000533
prefLabel

molecular genetic testing
subClassOf

http://purl.obolibrary.org/obo/MAXO_0000127
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