Protein CFTR acts in epithelium cells as a chloride channel. Mutations of gene CFTR are the cause for impairment of synthesis, function or transport of protein, which leads to symptoms of cystic fibrosis. The disease mainly affects respiratory and digestive systems and it is the most frequent autosomal recessive disease conditioned genetically in Caucasian population.
Frequency of cystic fibrosis occurrence in Poland is estimated at 1:2300 births. It is estimated that 1 of 25 people is a carrier of the mutated gene. The disease is often linked with reduced women fertility (dysfunction of mucus secretion at cervix) or total infertility of men connected with congenital lack or obstruction of deferent ducts. High heterogeneity of cystic fibrosis is connected with occurrence of symptoms from benign to severe, and even – in very difficult cases – leading to recommended lung transplant surgery.
Originally, it relates to epithelium cells of respiratory tracts, pancreas, intestines, gall bladder and sweat glands. in some cases, patients show symptoms of liver disease. Due to frequency of its occurrence and unfavorable chances of treatment, the disease is a serious problem not only in pediatrics, but also in internal and pulmonary medicine for adults. The test facilitates detecting 9 mutations of CFTR gene (Q493*, G542*, R560T, N1303K, R553*, W1282*, G551D, delI507, delF508)belonging to the group of most frequent culprits – the set identifies 60% of the pool of all alleles conditioning cystic fibrosis in the Polish population.
The purpose of the test is to verify clinical diagnosis thanks to detecting a mutation in CFTR gene and defining the risk of carrying a mutated gene.
Test material: full blood (EDTA), cheek swab
Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)
Testing method: Direct sequencing of respective gene’s fragments
Delivery date: up to 10 business days