Cystic fibrosis is a disorder characterized by the accumulation of thick, sticky mucus primarily in the lungs and digestive system. This progressive disorder leads to life-threatening lung infections, breathing difficulties, and poor digestion.
Cystic fibrosis is a common genetic disease, particularly among Ashkenazi Jewish and other Caucasians. In North America, approximately 1 in 3000 newborns are affected, and in the European Union, 1 in 2000-3000 are affected. Ireland has the highest prevalence of cystic fibrosis at approximately 1 in 1400.
Take this test to find out whether you are a genetic carrier for cystic fibrosis and are at risk of passing a CFTR variant to your children.
Cystic fibrosis is caused by variants in the CFTR gene. This gene provides instructions for the CFTR protein, a regulator that controls the movement of salt in the body. Cystic fibrosis patients produce a defective CFTR protein, affecting the cells that produce mucus, sweat, and digestive fluids. This leads to the characteristic symptoms of thick, sticky mucus in the lungs, very salty sweat, and thick digestive fluids.
Cystic fibrosis is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the CFTR gene for symptoms to occur.
This test detects 28 genetic variants of the CFTR gene that account for approximately 94% of carriers of Ashkenazi Jewish descent, 89% of European carriers, 73% of Hispanic carriers, 65% of African American carriers and 55% of Asian carriers.
More than 1900 variants have been identified in the CFTR gene. Over 500 of these variants are known to cause cystic fibrosis. The severity of cystic fibrosis symptoms vary depending on the type of the variant in the CFTR gene. DeltaF508 is the most common variant in cystic fibrosis cases across all ethnicities, but the frequency of other variants vary between different populations.
Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.
The symptoms of cystic fibrosis vary between individuals. The common symptoms include:
- Very salty skin in newborns
- Persistent coughing and wheezing
- Shortness of breath
- Inflamed nasal passages
- Frequent lung infections that lead to damage to the lung tissue and airways
- Decreased lung function
- Poor nutrient absorption
- Chronic diarrhea or constipation
- Bowel obstructions
- Foul-smelling stools
- Liver problems
- Reduced fertility
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.