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combination of DF508/NM_0004923

Vraag
My husband and I were found to be carriers of CF mutations. I have the DF508 mutation, and my husband carries the ΝΜ_0004923 mutation. What happens in this situation? What are the chances for our child to have CF? Thank you.
Antwoord
Dear friend,
You carry the DF508 mutation. Which mutation does your husband carry, according to standard classifications, such as variant eDNA name, variant protein name, or variant legacy name? I am not aware of the name of the mutation you mention in your query. If you cannot clarify, you can send me the diagnosis, without any names.
Yours friendly,
Dr. Stavros Doudounakis
11.05.2018