What type of hereditary disease is cystic fibrosis

But it does mean more testing is done. The first test done to try to diagnose CF is a sweat chloride test. Testing for the CF gene can be done from a small blood sample. Or it can be done from a cheek swab. For this, a brush is rubbed against the inside of your cheek. This is done to get cells for testing. Labs generally test for the 20 or so most common mutations. Not all of the genetic errors that cause CF have been found.

Many people with CF have mutations that have not been identified. Not all mutations can be found. So you can still be a CF carrier even if no mutations were found by carrier testing. Testing for the CF gene is advised for anyone who has a family member with the disease. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Cystic fibrosis. From Genetics Home Reference. Description Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. Frequency Cystic fibrosis is a common genetic disease within the white population in the United States.

Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials. References Accurso FJ. Update in cystic fibrosis Obstet Gynecol. Genet Med. Epub May Citation on PubMed Gardner J. What you need to know about cystic fibrosis.

Cystic fibrosis in adults: an overview for the internist. Cleve Clin J Med. Epub Apr But it does mean more testing is done. The first test done to try to diagnose CF is a sweat chloride test. Testing for the CF gene can be done from a small blood sample. Or it can be done from a cheek swab. For this, a brush is rubbed against the inside of your cheek. This is done to get cells for testing. Labs generally test for the 20 or so most common mutations.

Not all of the genetic errors that cause CF have been found. Many people with CF have mutations that have not yet been identified. Not all mutations can be found. So you can still be a CF carrier even if no mutations were found by carrier testing. Testing for the CF gene is advised for anyone who has a family member with the disease.