CYSTIC FIBROUS GENE CHECK NEOSCREEN TESTING

What is this?

Cystic fibrosis is the 2nd most frequent serious hereditary disease, which is transmitted from parents, carriers of its gene mutations, to children.

MAIN CASES OF APPEARANCE – INDICATIONS – SIGNIFICANCE

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)