№ 600-01
Cystic Fibrosis-BioChip
Description
Cystic fibrosis (CF) is one of the most common autosomal recessive diseases with multisystem manifestation. This monogenic disease is caused by mutations in the Cystic fibrosis transmembrane conductance regulator (CFTR) gene which lead to malfunction of the protein. An abnormal CFTR protein results in defective electrolyte transport and defective chloride ion transport in the apical membrane epithelial cells of the sweat gland, lung, pancreas, and intestine.
Over 1700 mutations have been identified in the CFTR gene. However, the vast majority of mutations are at frequencies of <0.01% or associated with mild CF phenotype. Only few most frequent mutations associated with an aggressive clinical behavior have an actual diagnostic value. The major mutation, ΔF508, accounts for 31% to 72% of CF patients, depending upon ethnicity/race. This diagnostic is designed to detect 25 mutations that are found at high frequency in European populations (including Slavic populations) and cause severe disease phenotype.
Indications for analysis:
• Neonatal screening;
• The disease confirmation, diagnosed in adulthood;
• Prenatal diagnostics in case of family history of the disease;
• Risk evaluation in case of family planning;
• Male sterility diagnostics.
Intended use:
• The diagnostic kit “Cystic Fibrosis-BioChip” provides a DNA test for the simultaneous mutation detection in the CFTR gene.