Susan A.Hi All, I just got my results back from NIH of the genetic testing they did several weeks ago. I was positive for the P30L and In2G mutations - what does that mean? It said it detected those genes in the CYP21 gene. It says I’m heterozygous for both mutations with each of the two genes containing one of the mutations. It did say it was consistent with the diagnosis of 21 hydroxylase deficiency... so is one mutation for saltwasting and one for late onset? HELP!!!!
Thanks.