How the diagnosis is reached?

A) Sweat test: The doctor may plan to examine the sweat of the infant if he/she suspects Cystic Fibrosis by clinical symptoms. This test measures the amount of salt (sodium chloride) to skin perspiration. Individuals with cystic fibrosis have a high level of salt in their sweat.

B) Genetic testing: Genetic testing is necessary to confirm the diagnosis. This involves a smear taken through the mouth from the inner surface of the cheek or from peripheral blood sample by performing molecular tests for detecting mutations of the gene of Cystic Fibrosis.

The most usual molecular test involves the detection of the most frequent mutation (DF508) covering 54% of cystic fibrosis carriers of Greek population. At an increased cost, a more detailed examination may check 36 mutations of the cystic fibrosis gene that covers 74% of the Greek population or even more extended investigations covering 85% of the mutations.

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  • Published: 14-12-2017
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