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CF carrier
- Vraag
- We were not genetically tested for CF and now there is no time left. I would like to know if a carrier of a CF mutation is totally without symptoms, and the only way to find out is dna testing? Thank you!
- Antwoord
- Dear friend,
You are quite right. A person who carries a CF mutation is totally healthy and there is no way to find out if he/she is a carrier, except for genetic testing for CF mutations in the CFTR gene. This testing can be targeted for specific mutations, if there are indications (e.g. family history), or it can involve a percentage of CF mutations (e.g. 50%, 90%, over 95%, 99%, etc.) The more mutations one is tested for, the less the chances to be a CF carrier.
Yours friendly,
Dr. Stavros Doudounakis - 03.08.2018
