Cystic Fibrosis
Sequencing of the CFTR gene

Genes
(full coding
region):		 CFTR
Lab method: NGS. Deletions CFTRdele2,3, CFTRdele21, 1949del84 are included in the testing. Other large deletions and duplications of the CFTR gene will not be identified.
TAT: 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

Deletion/duplication analysis of the CFTR gene

Genes: CFTR
Lab method: MLPA
TAT: 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.