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

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.

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.

In a patient with symptoms of cystic fibrosis, in relatives of a patient with cystic fibrosis and detected CFTR mutations, in a partner who is a carrier of a CFTR mutation before planned pregnancy (or during pregnancy), in adult men with impaired fertility (pathological spermatogram – azoospermia, or oligo/oligozoospermia), prenatal diagnosis in the case of partners who are heterozygous for CFTR gene mutation, prenatal diagnosis in foetuses with ultrasound signs of CF risk (intestinal hyperechogenicity)