Cystic Fibrosis DNA Testing

Find out if you carry a mutation in the CFTR gene

  • A disease affecting the respiratory and digestive systems
  • Approximately 1 in 25 Caucasians carry a mutation in the CFTR gene
  • Simple mouth swab DNA test with results in 1 – 2 weeks
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What is Cystic Fibrosis DNA Testing?

Over 1900 mutations have been identified in the CFTR gene and over 500 of these are known to contribute towards the symptoms of cystic fibrosis. Some mutations in the CFTR gene do not lead to disease, some mutations lead to mild symptoms that may not appear until adulthood and other mutations can cause a severe form of cystic fibrosis from a young age. Cystic fibrosis DNA testing is a non-invasive way to identify several of the more common CFTR mutations that lead to cystic fibrosis. This DNA testing can be useful to confirm a suspected cystic fibrosis diagnosis or to determine if an unaffected individual carries a single CFTR mutation and can pass this mutation to the next generation. This cystic fibrosis panel tests 39 of the most common disease-causing mutations in the CFTR gene.


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The kit can be ordered online, by fax or mail, or by phone. Once you place the order, the testing kit will be shipped directly to you. The kit contains swabs called “buccal swabs”. DNA is collected quickly and easily by rubbing the swabs inside your mouth against the cheek for 30 seconds. Once the DNA is collected, the swabs are placed into the specimen container provided in the kit and returned to the laboratory for testing using the return package included in the testing kit. Once your samples arrive at the laboratory, testing begins immediately and results are available in 1 to 2 weeks.

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Symptoms of Cystic Fibrosis

Respiratory Symptoms:

  • Persistent coughing & wheezing
  • Shortness of breath
  • Inflamed nasal passages
  • Frequent lung infections
  • Damage to lung tissue & airways
  • Decreased lung function

Digestive Symptoms:

  • Poor digestion & nutrient absorption
  • Chronic diarrhea or constipation
  • Bowel obstructions
  • Foul-smelling stools

Other complications:

  • Salty skin & sweat
  • Pancreatitis
  • Liver problems
  • Gallstones
  • Diabetes
  • Reduced fertility

Frequently Asked Questions

Avada Admin

The Disease

If my parents or grandparents have cystic fibrosis, am I at increased risk? How common is cystic fibrosis? What causes cystic fibrosis?

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Avada Admin

The Test

What is the CFTR gene? How many mutations are identified in this DNA test? Does this test identify all mutations in the CFTR gene?

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The Results

How will I receive my results? How long will testing take? What are the possible results and what are the interpretations for each result type?

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Get Started


Are you ready to get started? Print out this form and take it to your next doctor’s appointment to initiate a conversation with your doctor about Horizon carrier screening.

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Are you ready to get started? Visit our account setup page to begin offering Horizon in your practice.


Cystic Fibrosis Learning Center

What causes Cystic Fibrosis?

Cystic fibrosis is caused by mutations in the CFTR gene. The CFTR gene is responsible for encoding the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein. This protein primarily functions as a chloride channel that regulates [...]

What are the signs and symptoms of Cystic Fibrosis?

Cystic fibrosis is an inherited disease that affects epithelial cells in the respiratory, digestive and male reproductive systems. Affected people produce abnormally thick mucus that can cause airway obstruction, digestion and fertility problems. The signs [...]

Read More