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CYSTIC FIBROUS GENE CHECK NEOSCREEN TESTING
Cystic fibrosis is the 2nd most frequent serious hereditary disease, which is transmitted from parents, carriers of its gene mutations, to children.
The disease can be expressed when the same gene mutations from both parents are combined.
Reports indicate that 1 in 25 people in Europe is a carrier of some cystic fibrosis mutation in the European population. An absence of relevant prenatal laboratory testing has resulted in 1 in 2,000 - 3,000 newborns suffering from this serious disease.
For Greece, it is estimated that there are 500,000 carriers of the disease mutations, and thus for most doctors, the relevant genetic test, at the level of prenatal control, is deemed necessary.
The effects of the disease on the child who will be born with the disease are very serious in the function of the lungs, pancreas, liver, and intestine. Despite recent advances in the medical treatment of the disease, the average life expectancy of people with cystic fibrosis is significantly reduced (< 50 years in Canadian patients)
The analyzes that were carried out on the cystic fibrosis gene are of four levels:
F508del mutation The specific mutation in the cystic fibrosis CFTR gene is analyzed, and it is also the most common mutation found in the literature, approximately, in 50% of cases of the disease.
Pannel CFTR 89% It is the most frequently requested mutation detection package and is performed by analyzing 186 independent alleles of the cystic fibrosis gene CFTR.
It is mentioned in the literature that in the general population in cases of the disease, the percentage of coverage with this specific disease is 89%.
Pannel CF 99.6% It is the most modern analysis of genes for cystic fibrosis and is, the "complete" analysis package in families, who do have not any case of the disease.
The bibliography is mentioned that in the general population in cases of the disease, the percentage of coverage with this specific disease is 99.6%.
It is always important to consult a qualified healthcare professional before having any genetic testing to make sure you fully understand the conditions being tested for, as well as the interpretation of the results
Information selected - indicative with sources: Interpretation of Diagnostic Tests - J.Wallach and https://labtestsonline.org
The choice and explanation of the use of the analysis is the exclusive responsibility of your doctor
Edited by : Ioannis Grattisia Head of Laboratory / MSc Clinical Biochemistry - Molecular Biology
2022 - 2023
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