WHAT IS.
Cystic fibrosis is the second most common serious inherited disease, which is passed on from parents who carry mutations in its gene to their children.
CASES OF OCCURRENCE – INDICATIONS – SIGNIFICANCE
The disease can be expressed if the same gene mutations from both parents are combined.
Reports suggest that 1 in 25 people in Europe carry a cystic fibrosis mutation in the European population. In the absence of appropriate prenatal screening, 1 in 2,000 – 3,000 newborns suffer from this serious disease.
In Greece, it is estimated that there are 500,000 carriers of mutations of the disease, and thus for most physicians, screening gene testing, at the level of prenatal screening, is considered necessary.
The effects of the disease on the child born with the disease are severe in the functioning of the lungs, pancreas, liver and intestines. Despite recent advances in medical treatment of the disease, the average life expectancy of people with cystic fibrosis is significantly reduced (< 50 years in Canadian patients)
LABORATORY BLOOD TEST
The analyses done on the cystic fibrosis gene are four levels:
Mutation F508del :
F508del mutation The analysis of the specific mutation in the cystic fibrosis CFTR gene, which is the most common mutation found in about 50% of cases of the disease, is performed.
Pannel CFTR 89% :
Pannel CFTR 89% It is the most frequently requested mutation detection package and is performed by analysing 186 independent alleles of the cystic fibrosis CFTR gene.
It is reported in the literature that in the general population of cases of the disease, the coverage rate with this particular disease is 89%.
Pannel CF 99.6% :
Pannel CF 99.6% It is the most up-to-date analysis of cystic fibrosis genes and is, in practice, the “complete” analysis package in families where no case of the disease has been reported.
It is reported in the literature that in the general population of cases of the disease, the coverage rate with this particular disease is 99.6%.
Attention
It is always important to consult a qualified health professional before having any genetic testing to make sure you fully understand the conditions being tested, as well as the explanation of the results
Selected information from sources:
- MayoClinic.org
- Labtestsonline.org
- Interpretation of Diagnostic Tests – J.Wallach
The personalization of the check-up takes into account multiple parameters of personal and family history.
Depending on the case, the selection of tests may require some that are not mentioned on this page.
The exact selection is the responsibility of your attending physician.
Edited by: Ioannis Gratsias, Lab Director / Clinical Biochemist
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Cystic fibrosis (CF) is a genetic disease that mainly affects the lungs and digestive system. It is sometimes known as non-induced muscular hypertrophy or microscopic dyskinesic asthma. It is a chronic, progressive disease that affects the lungs and digestive system and also affects the production of balkanide, linking it to the body’s inability to secrete and regulate balkanide, a protein that helps cleanse the respiratory and digestive tracts.
Cystic fibrosis is usually diagnosed by a serological marker test, which tests the blood or mucus mixture for the presence of the CFTR protein, which is the cause of CF. In addition, genetic tests can confirm the diagnosis, although these tests are more complex and expensive.
A check-up for Cystic Fibrosis may include the following:
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Assessment of Respiratory Function: This evaluation may include pulmonary function tests (e.g., measurements of respiratory flow, lung capacity, etc.) and radiographic tests (e.g., chest x-ray) to assess the condition of the lungs.
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Monitoring of Diet and Energy Intake: Diet and energy intake are important factors in the management of Cystic Fibrosis. A nutritionist can conduct a detailed analysis of the diet and give advice on how to improve the diet.
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Control of Pancreatic Function: Because Cystic Fibrosis affects pancreatic function, it is important to monitor pancreatic function. Testing may include blood tests to measure pancreatic enzyme levels and possibly testing pancreatic molecular degradation function.
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Tests for the detection of micro-organisms: Patients with Cystic Fibrosis are more susceptible to microbial infections. Tests can be done to identify microorganisms in the different systems of the body.
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Cardiovascular Health Monitoring: Cystic fibrosis can also affect the cardiovascular system. Tests such as blood pressure monitoring and heart function monitoring can be important for monitoring cardiovascular health.
Regular monitoring and prevention of complications is vital for patients with Cystic Fibrosis. A comprehensive check-up can help manage the disease and improve their quality of life.
