CFTR is the only gene known to be associated with cystic fibrosis. Reasons for genetic testing or screening of this gene may include:

Diagnosis in individuals with symptoms of CF or with congenital absence of the vas deferens (CAVD)
Prenatal diagnosis of a fetus at risk
Carrier testing for at-risk relatives and their reproductive partners or for  population screening
Preimplantation genetic diagnosis for pregnancies at high risk for CF

Testing Resources
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening
An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.

An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
   
Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.