Thursday, October 23, 2014

Gene mutations

I just got off the phone with the genetic counselor from Clinic. I asked her yesterday if they could get a copy of Olivia's mutations from Ambry Genetics because we've always had a hard time finding info on her secondary mutation. We've always thought she had 3859 delc but it turns out she has 3659 delc. There are about 200 people with her combination of mutations and 97% of them have pancreatic insufficiency issues.  It makes no difference in Olivia's treatment, but is fascinating to know.

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