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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cystic fibrosis


Other Names for this Disease
  • Mucoviscidosis
  • CF
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Tests & Diagnosis

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What are the current genetic tests for cystic fibrosis?

CFTR is the only gene known to be associated with cystic fibrosis. Reasons for genetic testing or screening of this gene may include:[1]

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

References
  1. 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.


Testing

  • 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.
  • 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.
  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Other Names for this Disease
  • Mucoviscidosis
  • CF
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.