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Targeted mutation analysis

Synonym: allele-specific mutation analysis

Testing for either (1) a nucleotide repeat expansion (e.g., the trinucleotide repeat expansion associated with Huntington disease), or (2) one or more specific mutations (e.g., Glu6Val for sickle cell anemia, a panel of mutations for cystic fibrosis). Deletion/duplication analysis and family-specific mutation analysis are excluded from this definition

Related Terms: allele-specific oligonucleotide testing; Analysis of the entire coding region: Mutation scanning; Analysis of the entire coding region: Sequence analysis; Southern blot; trinucleotide repeat testing

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