Holly, I hope what I am able to share with you might help. My daughter was diagnosed with CAH in 1990 at age 1. Later that summer Dr. Maria New's lab called our endocrinologist requesting DNA testing. She had heard our daughter was not a typical case. The FIRST round of DNA testing found nothing conclusive. It was thought that perhaps my daughter had received two maternal genes opposed to one. This was quickly ruled out however, since mental retardation commonly accompanies a situation like this. It was not until a SECOND test was performed were they able to find the mutation on her father's side. I donated an empty allele. Perhaps your lab needs to look a little harder? Best of luck!!