Cystic fibrosis (CF) is a genetic disease that is characterized by chronic pulmonary disease, pancreatic insufficiency, and increased sweat electrolytes. The disease is inherited in an autosomal recessive pattern, which means that if two carriers (heterozygotes) mate, the chance of producing a child with CF is 1:4 with each pregnancy. Heterozygotes are clinically normal and do not display any of the characteristics of the disease.
The laboratory plays a crucial role in both the phenotypic and genotypic diagnosis of this disorder. This course will describe the history, clinical presentation, pathophysiology, genetic mutations of the CF gene, and the genotypic and phenotypic diagnosis of the disorder.