Cystic fibrosis

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What is cystic fibrosis? 
Cystic fibrosis (CF) is a genetic autosomal recessive disorder. It is one of the most common genetic diseases affecting Caucasians (one in every 2,500 to 3,500 newborns). 
The cause of CF 
The cause of CF are mutations in the CFTR gene, which is located on chromosome 7. More than 1,500 mutations have been found in the CFTR gene that have different effects on the development and severity of the disease. 
The most common mutation (70%), identified as F508del (or Δ508), results in the loss of the amino acid phenylalanine in the protein that regulates the transport of chloride ions through cell membranes. Due to this defect secretions produced by various glands are thick and can easy block glands, causing tissue damage. 
As in most European populations CF incidence of one in 2,500 to 3,500 newborns, it is assumed that approximately 3-4% of the population are carriers of the CF gene. Parents who are carriers of this gene may have: completely healthy children, children who are suffering from CF or children who are (like their parents) only carriers of the CF gene. 
For most patients, the first symptoms occur during the first two years, although they can occur in adolescents or adults also. In the most common mutation (F508del), which is associated with progressive lung disease and pancreatic insufficiency, the first symptoms appear early on in life. 
Complications and diseases 
The disease is characterised by changes in the lungs and pancreas, where it creates thick, mucous secretions that can lead to blockage of the bronchioles and pancreatic channels, leading to frequent failure and inflammation of these organs. CF can lead to functional disorders of other organs: the seminal tubules in the testicles (causing infertility), disorders of the digestive system, diabetes... The symptoms and their severity vary, and are not the same in all affected individuals. 
It is very important to diagnose the disease and begin proper treatment. Treatment is life-long and consists of taking medicines and vitamins, enzymes and a special diet, medications and inhalation solution, as well as physical therapy several times a day. 
CF can also be detected during pregnancy (prenatally). Prenatal testing is often advised for mothers at high risk of carrying a child affected by CF, which is usually assessed on the basis of a family history of CF. 
International standards provide for newborn testing if there is at least one characteristic symptom or a family history with at least one laboratory evidence of CF. 
Laboratory tests that diagnose CF are sweat tests and genetic analysis. Sweats tests are based on measuring the concentration of chloride in sweat. When repeated sweat tests show pathological changes, genetic analysis is performed. 
DNA testing 
DNA analysis of the CFTR gene is the only 100% reliable test to confirm the disease and/or identify mutations. It is recommended for all couples who plan to have children, especially those with a family history of CF. 
In our lab we analyse 50 common mutations in the CFTR region and variants 5T, 7T and 9T. Detected mutations are: 
  • CFTR (R347H, R347P, 2789 +5 G> A, 3120 +1 G> A, 711 +1 G> T, R334W, I507del, F508del, 3849 +10 kbc> T, 1677delTA, 1078delT, V520F, L206W, W1282X, R560T, 2347delG, Q890X, R553X, G551D, S549R (T> G), S549N, M1101K, G542X, 3905insT, Y1092X (C> A), S1251N, 444delA, 1811 +1.6 KBA> G, 1717 -1G> A, R117H, R117C, N1303K, Y122X, 394delTT, G85E, R1066C, 1898 +1 G> A, W846X, 2184delA, D1152H, CFTRdel2, 3, P67L, 2143delT, E60X, 3659delC, 3272-26A> G, 621 +1 G> T, A455, R1162X, R1158X)
  • 5T (IVS8-5T)
  • 7T (IVS8-7T)
  • 9T (IVS8-9T)
The result of the analysis is obtained within 2-3 business days. 
Samples for prenatal testing can be chorionic villi cells (CVS) and amniotic fluid. 
Newborns and adult testing is done using buccal swabs or blood. 
Price does not include sampling CVS, amniotic fluid or umbilical cord blood for prenatal testing - these samples are taken exclusively by gynecologists at extra cost. 
Cystic fibrosis 15.000 
Prices for all tests in the field of medicine and payment instructions can be found here