-
mutation analysis
(myoo-TAY-shun uh-NA-lih-sis)
- A germline
genetic testing method targeted to detect a specific
variant or mutation (such as a deleterious
MSH2 variant previously identified in
a family), panel of variants (such as the 3
BRCA pathogenic variants comprising
the founder mutation panel for individuals of Ashkenazi
Jewish ancestry) or type of variant (such as large
deletions or insertions in the BRCA1
gene). This type of testing is distinct from complete gene
sequencing or variant scanning. The latter are designed to
detect most variants in the region being tested. Current
usage also applies this term to any genetic
test.