Synonym(s)
- carrier detection
- carrier screening
- heterozygote testing
Definition(s)
- Testing used to identify usually
asymptomatic individuals who have a gene mutation for an autosomal recessive
or X-linked recessive disorder
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Definition from: GeneReviews
from the University of Washington and the National Center for Biotechnology Information
- Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal allele for a gene associated with the disorder. A child must inherit two abnormal alleles in order for symptoms to appear. Prospective parents with a family history of a genetic disorders are candidates for carrier screening.
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Definition from: Talking Glossary of Genetic Terms from the National Human Genome Research Institute
Related discussion in the Handbook
See also Understanding Medical Terminology.
