. Defects of innate immunity .

Cystic fibrosis (CF) panel [1 gene]

Cystic fibrosis is an inherited condition caused by mutations in the CFTR gene. This gene encodes a large transmembrane protein that acts as a channel for the transport of chloride ions through the plasma membrane. Chloride is used to produce sodium chloride, the common salt found in sweat, but is also important to control water distribution in tissues, which is necessary for the production of mucus. When the CFTR channel is mutated, it cannot regulate the flow of chloride and water across cell membranes. Consequently, mucus-producing cells, such as those covering the hallways of lungs, intestines, or the pancreas, produce an unusually thick and sticky mucus that clogs airways and various ducts.

Clinical features

  • Chronic respiratory problems
  • Inflammation, fibrosis and lung cysts
  • Recurrent bacterial lung infections
  • GI complications (ileus, malnutrition, low insulin),
  • Reproductive complications
  • Onset: neonatal


  • 1 in 2,500 to 31,000

Service benefits and management

  • Genetic diagnosis and counseling
  • Preventive care
  • Prophylactic antibiotics
  • Immunizations
  • Anti-inflammatory therapy
  • CFTR modulators