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Sweat test

Question
If the sweat test is negative, does it means that I am a cystic fibrosis carrier?
Answer
Hello,
The sweat test is recomended for making the diagnosis of cystic fibrosis, which is a genetic disease caused by mutations in the cystic fibrosis (CFTR) gene.
Carrier status of a mutation in the cystic fibrosis gene, does not mean that the person has the disease. For a child to have cystic fibrosis, it is mandatory to have two mutations, one from one parent, another from the other parent with 25% risk, there is also another 50% chance to be just a carrier, even healthy and another 25% chance to have healthy children having inherited none of the CFTR mutations of their parents.
In conclusion, a negative sweat test suggest that you do not have cystic fibrosis (you can either be a carrier of one mutation or do not carry any CFTr mutation at all), which is manifested by a specific clinical picture. There are atypical cystic fibrosis forms with negative sweat test resulst however.
Sincerely,
Dr Ioana Ciuca
29.07.2014