Looking for more information.

[MattieG]

If I test positive for one copy of the R117H-7T mutation and 7T. Does this mean I have Cystic Fibrosis? I was told I am a carrier of the gene. I will not get into see a doctor for another week to discuss results. I am concerned and hoping for more information, if possible.

Thank you!

 

[emason]

A carrier does not have CF. A CF carrier has one mutation (in your case r117h 7t). In order to have CF a person would have to have 2 mutations. Sounds like your test results indicated that they only found the one and are assumed to be only a carrier, meaning you do not have CF.

For example, I'm a carrier of df508. My husband is a carrier of g1069r. Our older son inherited g1069r but not my mutation making him also just a carrier. My younger son inherited both df508 and g1069r so he is affected and now followed by a cf center


Why were you being tested? If you don't mind me asking of course.

 

[Printer]

There are almost 2000 mutations and any combination of two (almost four million combinations) will cause CF. You would need to have a FULL CYSTIC FIBROSIS SEQUENCING, including a search for duplicates before anyone could tell you don't have CF.

Bill