Australian Guidelines for the performance of the Sweat Test for the diagnosis of Cystic Fibrosis

Abstract

Cystic Fibrosis (CF) is an autosomal recessive disease resulting from mutations in the cystic ?brosis transmembrane conductance regulator (CFTR) gene on chromosome 7. 1 Many different mutations have been identi?ed, but in Australia, over 90% of CF patients have at least one copy of the Delta F508 mutation. CF has an incidence here of about 1:2100 live births 2 and is usually diagnosed by the ?nding of an elevated sweat chloride concentration.