Mutation analysis

Germline genetic testing method targeted to detect a specific mutation (such as a deleterious mutation previously identified in a family), panel of mutations (such as the 3 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 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.