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NCFDNA offers RespiraCF™, a non-invasive test (Buccal swab) used to determine if an individual is a carrier of a mutation that can cause Cystic Fibrosis. This test is offered to both males and females since either partner could be a carrier. If an individual is determined to be a carrier of the genetic variation, this could be passed down from parent to child. When both partners are carriers and pass down the affected allele, the child can develop cystic fibrosis.

What is Cystic Fibrosis?

Cystic Fibrosis is a genetic disease that causes persistent lung infections and digestive problems. It is caused by a mutation (change) in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. This gene controls the balance of salt and fluids in the cells of the body that make mucus, sweat and digestive fluids. If this gene has a mutation, these fluids thicken, causing blockage of tubes throughout the body. This mostly causes problems in the lungs and digestive system.

How prevalent is Cystic Fibrosis?

There are more than 30,000 people in the U.S. living with CF and at least 1000 diagnosed yearly.

What are the Signs and Symptoms of Cystic Fibrosis?

-Persistent productive cough of thick sputum

-Wheezing

-Breathlessness

-Exercise Intolerance

-Recurring Lung Infections

-Persistent inflammation of the upper airway

-Foul-spelling, greasy stools

-Poor weight gain and growth

-Intestinal blockage, particularly in newborns (AKA meconium ileus)

-Severe Constipation

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How is Cystic Fibrosis treated?

After receiving a diagnosis of Cystic Fibrosis, a customized treatment plan is necessary to living a longer and more fulfilling life. Treatment for CF is personalized to each patient depending on the current signs and symptoms. Potential therapies may include:


-Airway Clearance Techniques (ACTs) loosen thick mucus so it can be cleared more easily from the lungs. Keeping the airways clear may help to decrease the risk of infection and improve lung function.

-Aerosol Medication Treatments to Decrease Inflammation

-Supplemental Medications to help your digestive tract absorb nutrients

-CFTR Modulator Therapies carry the function of correcting the function causing the mutated protein. These therapies are currently specific to the type of mutation.

-Oxygen Therapy may be recommended to avoid pulmonary hypertension if your blood oxygen level begins to decline.

-Temporary Feeding tubes may be needed during the night time hours to help your body absorb nutrients that it is not getting from normal food digestion.

-Bowel surgery is sometimes needed if blockages develop.

-Lung transplantation may be an option for patients with very serious complications from cystic fibrosis.

-Clinical Trials – There are ongoing opportunities to be a part of a clinical trial testing new therapies for Cystic Fibrosis.