Mutations associated with cystic fibrosis

A method comprising:

• detecting in a sample obtained from a human subject a 4089ins4 mutation of cystic fibrosis transmembrane conductance regulator (CFTR) gene using a plurality of labeled nucleic acid molecules, each comprising a label and a fragment of a CFTR gene nucleic acid sequence that specifically hybridizes to CFTR gene containing the 4089ins4 mutation but not to a wild-type CFTR gene, wherein the label comprises one of a radionucleotide, a fluorophore, a chemiluminescent agent, a microparticle, an enzyme, a colorimetric label, a magnetic label, a hapten, a molecular beacon, or an aptamer beacon.