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Mutation analysis


Testing for the presence of a specific mutation (e.g., Glu6Val for sickle cell anemia or a trinucleotide repeat expansion associated with spinocerebellar ataxia) or set of mutations (e.g., a panel of mutations for cystic fibrosis), as opposed to complete gene sequencing or mutation scanning, which detect most, if not all, mutations in the tested region

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

Related discussion in the Handbook

See also Understanding Medical Terminology.

Published: February 8, 2016