Cystic Fibrosis (CFTR gene)
MATERIAL & VOLUME
EDTA blood, 2x 2-5ml
-Declaration of consent is required (Form)
-Attach family medical history
Cystic fibrosis is one of the most common genetic diseases in Caucasians with an incidence of about 1:2000 and a carrier frequency of about 1:25. It is caused by pathogenic variants in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator) and is inherited in an autosomal recessive pattern. This means that an individual will develop cystic fibrosis if pathogenic variants are present in both copies of the CFTR gene, whereas individuals with only one pathogenic variant are healthy carriers. In couples where both partners are carriers, the chance of having a child with cystic fibrosis is 25%.
Pathogenic variants in the CFTR gene disrupt the function of chloride ion channels in the membrane of glandular epithelial cells, and thus alter the concentration of salt in sweat and other body secretions. As a result, people with cystic fibrosis primarily experience chronic symptoms of the respiratory and gastrointestinal tracts, but cystic fibrosis can also lead to infertility in men. The type of CFTR variant determines the severity of the disease. A distinction is made between classic forms of cystic fibrosis as a multisystemic disease with early manifestation, and the so-called CFTR-related disorders that encompass disseminated bronchiectasis, chronic pancreatitis, or congenital bilateral aplasia of the vas deferens (CBAVD).
The indication of the ethnic origin of the patient is essential when assessing the test result, as the mutation spectrum differs significantly in different ethnic populations.
INDICATIONS FOR TESTING
-Specific symptoms such as meconium ileus, growth failure, abnormal sweat test, recurrent respiratory infections, male infertility/azoospermia
-Carrier screening for known familial mutation(s)
-Carrier screening for partners of known carriers
RELATED TEST PROFILES, ESTIMATED TURNAROUND TIMES AND COSTS
Profile Test Est. TAT Est. Costs
01906 Screening for 50 most frequent variants: 1 - 2 weeks CHF 500
01831 Complete testing of the gene (incl. gene dosage alterations): 4 - 8 weeks CHF 3500
0945 Sequencing of known familial CFTR variants: 2 - 4 weeks CHF 280 - 500
POSITION / PRICES
Positions: Insurance covered
Price: Pos.-No: TP/CHF:
DNA-Extraction 6001.03 61
NGS 6221.60 2900
MLPA 6221.55 350
ARMS 6221.54 185 (2x)
Sanger sequencing 6221.56 215
* This position can vary depending on the number of genes to be analysed and the variants found.
NGS – Sequencing of the complete coding sequence of the CFTR gene (+/- 10 base pairs)
MLPA – Determination of gene dosage alterations (deletions/duplications) in the CFTR gene
ARMS – Screening for the 50 most frequent CFTR variants
Sanger sequencing – Targeted identification of known familial CFTR pathogenic variants by sequencing individual exon(s)
labor team w ag