Cystic Fibrosis

CFTR gene sequencing


Lab method: Next generation sequencing. Large deletions (except CFTRdele2,3 and CFTRdele21) and duplications of the CFTR gene will not be identified.

Price / TAT: 360 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for family members of CF patients
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation

Cystic fibrosis (CF) is an autosomal recessive, multisystem disease. CF is characterized by recurrent lung infections, malabsorption, malnutrition, and male infertility. Cystic fibrosis is caused by thick and sticky mucus due to disturbances of salt homeostasis in cells.

CF is caused by mutations in the CFTR gene encoding cystic fibrosis transmembrane conductance regulator protein. The CFTR protein functions as a chloride channel expressed on epithelial cell membranes and controls the regulation of other transport pathways.