cystic fibrosis mutation panel
Genetic test that screens for specific common mutations in the CFTR gene to determine cystic fibrosis carrier status.
Full Definition
A cystic fibrosis mutation panel is a targeted genetic test that screens for a predetermined set of common mutations in the CFTR gene responsible for cystic fibrosis. Standard panels typically test for 23-32 of the most frequent mutations, with detection rates varying by ethnicity. While these panels identify the majority of cystic fibrosis carriers in most populations, they do not detect all possible CFTR mutations, leaving a small residual risk. In reproductive genetics, these panels are commonly included in carrier screening programs, and results guide counseling about reproductive risks and options for at-risk couples.
Usage
Usage note: Often abbreviated as 'CF panel' in laboratory reports.
In Context
- "The cystic fibrosis mutation panel detected the deltaF508 mutation, confirming carrier status." — Genetic testing report
- "Expanded carrier screening included the standard cystic fibrosis mutation panel plus additional CFTR variants." — Laboratory methodology description