(synonym - targeted mutation analysis) Testing for the presence of a specific mutation (e.g., Glu6Val for sickle cell anemia), a specific type of mutation (e.g., the trinucleotide repeat expansion associated with spinocerebellar ataxia type 1, deletions associated with Duchenne muscular dystrophy), 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 mutations in the tested region.