Cystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene

Test covered by the reimbursement:
Peripheral blood, Isolated DNA from blood
Turnover time:
3 weeks
1 week


Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C

Quick test description:

Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.

Test details:

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene mutations are responsible for the autosomal recessive inherited disease cystic fibrosis (CF), with an approximate incidence of 1:2,500 live births. Clinical manifestations of CF include chronic disease of the sino-pulmonary and gastrointestinal systems, increased sweat chloride concentration, and congenital bilateral aplasia of the vas deferens (CBAVD). Examination of CFTR gene mutations using the kit serves as a rapid diagnostic test to detect the most common known multiethnic CFTR gene mutations. Generally, this test consists of amplification of specific DNA fragments with fluorescent primers and subsequent fragmentation analysis. We use fluorescence ARMS (Amplification Refractory Mutation System): an allelic-specific amplification that detects point mutations, insertions or deletions in DNA. This concerns a variant of multiplex PCR where the presence or absence of a point polymorphism is tested by a primer with a decisive nucleotide at the 3' end. ARMS-PCR consists of two separate PCR reactions, one specific for the normal DNA sequence and the other for the mutation sequence.