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.
CF is the most common fatal genetic disease in the United States. It mostly affects white infants, children and young adults.
CFTR gene analysis is done to see if there are defects or mutations in the CFTR gene.
In an infant, a blood sample is drawn from the heel by collecting a spot of blood onto filter paper.
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?
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