NCI Dictionary of Genetics Terms

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The NCI Dictionary of Genetics Terms contains technical definitions for more than 200 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

mutation analysis
(myoo-TAY-shun uh-NA-lih-sis)
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.