Other Names for this Disease
Tests & Diagnosis
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
More information about genetic testing for cystic fibrosis is available on The National Human Genome Research Institute’s Web site and can be viewed by clicking here.
Last updated: 6/22/2012
- Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Cutting GR. CFTR-Related Disorders. GeneReviews. February 19, 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cf. Accessed 2/20/2009.
- The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (Lab QA) Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of the document "ACMG Standards and Guidelines for Clinical Genetics Laboratories." These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. To view the Technical Standards and Guidelines for CTFR gene mutation , visit the link above.
- 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.
- An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
- An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
- 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.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
- Giusti, et al. New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population. Pediatrics. 2007;119:e460-e467
- Comeau, et al. Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. Pediatrics; 2007;119:e495-e518.
- The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.