Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the Caucasian population, with a carrier frequency of approximately 1 in 25. This condition affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Disease expression is variable and can range from mild pulmonary and pancreatic involvement to severe progressive obstructive lung disease with pancreatic insufficiency and early mortality. Affected males are also typically infertile. CF occurs in approximately 1 in 3,200 Caucasian individuals, with a lower frequency in other ethnic and racial populations.

CFTR (cystic fibrosis transmembrane conductance regulator) is the only gene known to be associated with cystic fibrosis. To date, there have been more than 700 mutations and variations identified in the CFTR gene. The frequency of each mutation varies among different populations, both geographically and ethnically. Targeted mutation analysis at Genetics Center detects 40 different known disease-causing CFTR mutations, including the 23 mutations recommended by the American College of Medical Genetics (ACMG) guidelines. For a more comprehensive approach, CFTR full gene sequence analysis is also available through Genetics Center's Molecular Laboratory.