Hi Steve,

Genetic testing can run between $300 to $600. The Chapman Institute in Oklahoma charges the least... around $300 or so. Cornell charges $600. The DNA can tell you your genotype. For example, my son’s mutations classify him as a SV. However, it doesn’t necessarily mean that he will present as a SV. Sometimes the genotype and phenotype don’t match. I found the DNA useful just for my own information as to what the label was for theCAH my son had. His clinical history has so far supported his genotype.  My husband and I also had DNA testing done to see if we were carriers and to verify my son’s diagnosis. I wanted to find out what gene my husband and I carried so if we decided to have another baby (which we are and he does have CAH) then we would be prepared. If we didn’t have the mutations or only one of us had a mutation then I would have a million other questions for the endos regarding my son’s diagnosis. Spontaneous DNA mutations can occur and I wanted to rule that out as well. I hope I haven’t confused you...I’m kind of rambling...to many kid activities today :)

My insurance paid for some of our DNA testing but not all. I would verify with your insurance the type of coverage you have if you don’t want to fork over any money out of your own pocket. In my case, I had to pay it first and then get some of it reimbursed from my insurance.

Personally, I think that  even though it may not be necessary to know the "label" of your CAH since your clinical presentation is what is really important, it is interesting to find out..for curiosities sake. I also think it is a good tool to use for those babies that are newly diagnosed. Just for verification.

Good luck,

Sandra