Cystic fibrosis is a multisystem disease that affects the lungs, pancreas, gastrointestinal tract and reproductive systems. Symptoms of cystic fibrosis can vary amongst individuals and most frequently include lower airway inflammation and chronic infections that can progress to end-stage lung disease. Pancreatic insufficiency with malabsorption is a complication that occurs in many individuals with CF. Most males with cystic fibrosis experience infertility. Individuals with cystic fibrosis have normal intelligence and the average median survival is currently 37 years. The most common cause of death is respiratory failure. Treatment of an individual with CF can include medication to improve digestion, monitored nutrition and lung therapy. Up to 15% of individuals with a diagnosis of cystic fibrosis can have a mild form with an average life expectancy of 56 years. Cystic Fibrosis is inherited in an autosomal recessive manner.
The GenPath Cystic Fibrosis Test includes the 23 mutations recommended by ACMG and ACOG* as well as additional mutations of lower frequencies. The GenPath Expanded Cystic Fibrosis Carrier Screening consists of over 200 mutations reported to cause CF, including the 23 mutations recommended by ACMG and ACOG*. Improved detection rates are seen in many ethnicities with the use of Expanded CF Carrier Testing. The knowledge gained from the Expanded CF Panel allows couples to make informed reproductive decisions, and can also be used to alert family member to the possible need for CF testing. If there is no history of CF in your family your risk for being a CF carrier is shown in the following table:
*Note: ACOG and ACMG are not associated with, sponsored by or has endorsed our genetic screening.
|Ethnicity||Carrier Risk*||Detection Rate||Residual Risk|
|Ashkenazi Jewish||1 in 24||99%||1 in 2301|
|Caucasian||1 in 25||92%||1 in 301|
|Hispanic||1 in 58||83%||1 in 336|
|African American||1 in 61||77%||1 in 262|
|Asian||1 in 94||55%||1 in 205|
* As stated in ACOG Committee Opinion No. 325