Cystic fibrosis is caused by genetic changes in the CFTR gene. This gene provides synthesis of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. These proteins control the balance of salt and water in the lungs and other tissues. All humans have two copies of the CFTR gene. Both copies of this gene must be altered to cause cystic fibrosis.
More than 1,700 CFTR mutations have been identified.
Using this method, it is possible to exclude two variants of the CFTR gene, which are the most common alleles causing cystic fibrosis in the population of Northern Europe.
Blood or saliva.