Well after 12 weeks I finally received the results of my son's gene sequencing. According to the geneticist, no mutations were found. She wants me to come back in to go over what other tests she would like to run. Also she wants to confer with the GI about another test that might be relevant...
It has been a long journey just to get this point. First the CF Center wouldn't use Quest so it was up to me get that one figured out. My ped had no idea what kind of test to order. She felt that since the first test was negative that he couldn't have it. I finally got into a geneticist who...
I talked to the doctor and was told the Quest test was useless. Unfortunately because we cannot afford the Ambry test he will not be getting testing. On the Quest Diagnostics site it does say they offer: Complete rare mutation analysis, entire gene sequence and CFTR gene duplicatin and...
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