Refer to separate discussions in UpToDate regarding clinical findings that would indicate a need for testing such as chronic sinusitis, lung or gastrointestinal disease, infertility, or positive sweat chloride testing, as well as discussions of risk estimates and reproductive options.
CF: cystic fibrosis; PV: pathogenic variant.
* If a relative has CF and their CFTR PVs have not been defined, test the relative first. If it is not possible to obtain information about the familial PV, refer to a genetics expert to determine the best approach to testing, which may include CFTR sequencing of the partner with a positive family history.
¶ Refer to UpToDate for a discussion of best practices for routine carrier screening.