Cystic Fibrosis

Gene : CFTR

What is Cystic Fibrosis (CF)?

Cystic fibrosis is an inherited disorder that causes mucus to build up and damage many of the organs in the body. CF particularly affects the lungs and pancreas. This causes chronic lung infections with difficulty breathing and digestive problems. Symptoms and severity can vary depending on the pathogenic variants present in a person. Death due to complications of CF can vary from childhood well into adulthood. CF is caused by pathogenic variants in the CFTR gene.

How is Cystic Fibrosis syndrome inherited?

CF is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

What does it mean to be a carrier?

There are generally no signs or symptoms associated with being a carrier for CF. However, the risk to have a child affected with CF is increased, especially for certain ethnicities. Testing of reproductive partners is recommended for carriers of CF.

How common is Cystic Fibrosis?

CF is more common in the Caucasian (white) and Ashkenazi Jewish populations and less common in other ethnic groups. CF occurs in about 1 in 2,500 Caucasian newborns and 1 in 2300 newborns of Ashkenazi Jewish descent. Cystic fibrosis is less common in other ethnic groups, with 1 in 17,000 African Americans and 1 in 31,000 Asian Americans newborns born with CF.

Family References and Resources
Clinician References
What is Analyzed?
  • Full gene sequencing
  • Copy number analysis: exons 2 & 3
Affected Systems


GI Tract


Carrier Rates
Detection Rate
Carrier Frequency
African American 99% 1 in 65
Ashkenazi Jewish 99% 1 in 25
East Asian 99% 1 in 90
General Population 99% 1 in 25
Hispanic American 99% 1 in 46
Northern European Caucasian 99% 1 in 25
South Asian 99% 1 in 90
Southeast Asian 99% 1 in 90

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