Genetic Analysis for Cystic Fibrosis

This test determines if there are defects, or mutations, of a specific gene. The defects result in a flawed protein that causes cystic fibrosis.




This test determines if there are defects, or mutations, of a specific gene. The defects result in a flawed protein that causes cystic fibrosis.



Cystic fibrosis (CF) is an inherited disorder caused by defects, or mutations, of a specific gene.

  • The gene is called CFTR (cystic fibrosis transmembrane conductance regulator).
  • Defects in the CFTR gene cause the body to make a defective protein.
  • The defective protein causes the body to make abnormally thick mucus.
  • This thick mucus affects many body systems; especially the lungs, digestive and male reproductive systems.

CF is the most common fatal genetic disease in the United States. It mostly affects white infants, children and young adults.

  • CF occurs when a baby receives a defective gene from both parents.
  • If the baby only receives a defective gene from one parent, they will not have symptoms.
  • However, the baby will be a carrier and can pass the defective gene on to his or her children.

CFTR gene analysis is done to see if there are defects or mutations in the CFTR gene.

  • If defects are present, they can lead to the body making a defective protein that causes cystic fibrosis.
  • The test can determine a person's carrier status or confirm a CF diagnosis in a patient with a positive sweat test. The sweat test measures the level of salt in the sweat. It is the simplest and most reliable way to diagnose cystic fibrosis.

In an infant, a blood sample is drawn from the heel by collecting a spot of blood onto filter paper.

  • In older children and adults a blood sample is obtained by inserting a needle into a vein in the arm.
  • This care path is for genetic testing on a blood sample. A scraping of the inner cheek (buccal swab sample) or prenatal specimen (amniocentesis) may also be used.

If you are considering genetic testing, be sure to discuss the pros and cons with your doctor or a genetic counselor. Genetic counseling is recommended for people both before and after CFTR testing.

What should I ask my health care provider before having this test?

  • Is there any special preparation for the test? (If so, get clear steps to follow.)
  • Do you recommend I have this test? If so, why?
  • Should I have genetic counseling before or after the test?
  • If the test comes back as positive, what are my options?

Source UHC.com

Also known as:

Laboratory Work
Genetic Analysis for Cystic Fibrosis


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