Our DNA tests also came up showing no gene mutations. As Lynn mentioned, only 8 mutations are looked for in most DNA labs. I also have been questioning my sons diagnosis, however taking him off meds is not an option I am considering at this time. I recently contacted the genetics counsellor Lynn mentioned in her post at Cornell/Weill medical collage. She is having my sons information faxed to her so that she can take it to one of the endo's there to review. If they agree that it appears he has CAH, they are then going to use the sequencer to attempt to find the mutations. The sequencer basically looks for any mutation, not just the 8 commonly checked for. Her name is Anne Carlson and her phone # is 212-746-3495. If nothing else you might want to call for some advice. Email me if you have questions nanddgregory@netscape.net