Patent ID: 8460871

Claim:
A method of determining the cystic fibrosis status of a human comprising: (a) determining the presence of a c.1509 — 1510delinsT mutation in one or both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human wherein the determining comprises hybridizing with a detectably labeled probe comprising the mutant CFTR sequence, and (b) identifying the human: (i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the c.1509 — 1510delinsT mutation in the CFTR gene, or (ii) as being a cystic fibrosis carrier when the human is heterozygous for the c.1509 — 1510delinsT mutation in the CFTR gene, or (iii) as having no predisposition or carrier status caused by the c.1509 — 1510delinsT mutation when the c.1509 — 1510delinsT mutation is not present in either allele of the CFTR gene.