Cystic Fibrosis

Cystic fibrosis (CF) became the first target of pan-ethnic universal carrier screening by molecular methods. ACMG recommended a core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of individuals with no family history of the disease¹

Cystic fibrosis is a genetic disorder that causes problems with breathing and digestion. People with CF have mucus that is sticky and too thick, which blocks airways and leads to lung damage, traps germs and makes infections more likely and prevents proteins needed for digestion from reaching the intestines, which decreases the individual's ability to absorb nutrients from food.

Cystic fibrosis results from mutations in the CFTR gene which has instructions for making the CFTR protein. To get affected with CF both the CFTR genes should have mutations. Doctors recommend CF screening test as soon as the birth as a part of newborn screening.

When should you get tested?

• Cystic fibrosis testing is a routine part of newborn screening programs in many countries.
• If there is a known family history of cystic fibrosis
• Individuals or couples who are planning to have children
• Individuals presenting with symptoms such as chronic respiratory infections, persistent cough, digestive problems, failure to thrive, or other related complications.
• Cystic fibrosis carrier screening is often offered as part of population screening programs or to individuals considering marriage or starting a family.

Test specifications

References

1. Deignan, Joshua L et al. “CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).” Genetics in medicine : official journal of the American College of Medical Genetics vol. 22,8 (2020): 1288-1295. doi:10.1038/s41436-020-0822-5