Cystic Fibrosis

Cystic fibrosis (CF) is a serious autosomal recessive disease that affects approximately one in every 4,000 newborns in the United States,  but may also be diagnosed later in childhood or in adulthood. Symptoms of CF include lung disease, liver disease, and exocrine and endocrine pancreatic insufficiency.  Age of onset, severity of symptoms, and manifestations of CF vary widely.  CF is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.  More than 2,000 CFTR variants have been reported,  but most are very rare and of unknown significance, presenting a diagnostic challenge. The gold standard for diagnostic testing of CF is sweat chloride testing. The immunoreactive trypsinogen (IRT) test is a preliminary assay used for newborn screening. Molecular testing (ie, DNA analysis) can be used for carrier screening, newborn screening, and diagnostic testing.

Tabs Content
Content Review: 
May 2019

Last Update: May 2019