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Possibility of carrying 2 mutations
- Question
- I am pregnant and I was tested for 85% of the greek CF mutations of the CFTR gene. I was found to be a carrier of the Ν1303Κ mutation.
Is it possible for me to carry another mutation of the CFTR? Would that mean that I need to do a more complete genetic testing, one that covers a bigger percentage of the mutations?
- Answer
- Dear friend,
You were tested for 85% of the greek mutations of the CF gene and you were found to be a carrier of the N1303K mutation.
You can possibly not carry another mutation, since that would mean that you yourself would suffer from CF.
You do not need to do further checking, but your husband MUST BE CHECKED for the largest possible number of CF mutations.
Yours friendly,
Dr. Anna Katelari
- 14.01.2013
