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| CFTR gene analysis, Cystic fibrosis | Price 46'000 tenge |
Mucoviscidosis (cystic fibrosis) is an autosomal recessive disease whose pathogenesis is based on impaired transport of chlorine and sodium ions across cell membranes. It results in excessive mucus secretion in the endocrine cells of the pancreas, bronchial epithelium, gastrointestinal mucosa, sinus cavities, and testicular tubules. The main diagnostic laboratory sign is increased concentration of sodium and chlorine ions.
Clinically, the disease manifests itself in 4 forms with great clinical polymorphism, ranging from congenital conditions to mild forms in adults. In 4% of patients, cystic fibrosis is diagnosed as an adult.
The diagnosis of cystic fibrosis is based on the clinical picture and the results of biochemical determinations of sodium and chloride ions in sweat. In 1-2% of patients with cystic fibrosis, the concentration of chloride in sweat is within normal limits.
More than 1,500 mutations have been found in the cystic fibrosis gene (CFTR gene), and about 300 of them have a pathological effect. The most frequent mutation (up to 70% of all cases) is the F508del deletion.
The incidence of cystic fibrosis varies from country to country. In Europe, for example, it ranges from 1:2,500 to 1:10,500; in Russia, it ranges from 1:4,000 to 1:17,000. Mucoviscidosis is rare in eastern populations and in African populations (1:100,000).
A molecular genetic panel of primers to detect 15-86 mutations (out of 200-300) can identify 60-80% of mutation carriers in the Caucasian population. For a complete study of the cystic fibrosis gene, its sequencing should be performed.
The TreeGene laboratory conducts QF-PCR studies to identify the 36 most common mutations. The analysis is important for adequate therapy and prediction of future progeny in affected families.