Mutation Analysis

Definition 1

A procedure to test for the presence of a specific mutation or a set of mutations as opposed to complete gene sequencing or mutation scanning, which detect most, if not all, mutations in the tested region. (From GeneTests). (NCI Thesaurus)

Definition 2

Germline genetic testing method targeted to detect a specific mutation (such as a deleterious MSH2 mutation previously identified in a family), panel of mutations (such as the 3 BRCA mutations comprising the founder mutation panel for individuals of Ashkenazi Jewish ancestry) or type of mutation (such as a large deletions or insertions in the BRCA1 gene). This type of testing is distinct from complete gene sequencing or mutation scanning. The latter are designed to detect most mutations in the region being tested. Current usage also applies this term to any genetic test. (NCI Dictionary)

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