A member asked:

Cystic fibrosis is a disorder of genes but which ones?

A doctor has provided 1 answer
Dr. Lokesh Guglani answered

Specializes in Pediatric Pulmonology

CF gene mutations: There are currently more than 1900 mutations that are known to cause cf. About 70% of CF pts in us have deltaf508 mutation, as 1 in every 25 persons is a carrier for this mutation. All these mutations result in abnormal activity of a protein called cftr which causes all the CF related problems. Genetic testing can give the specific mutation each pt has. Talk to your local CF center.

Answered 10/3/2016

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