Congenital Adrenal Hyperplasia

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re: End of this path...
Dec. 14th, 2007   7:45pm

Kat, after reading this I just wanted to say not to trust the results. The reason being that both of my kids had their DNA testing done there. They missed the deletion. Said my daughter had two V218L mutations, when in reality she has one V218L mutation and one deletion, they also said my son was not a carrier, when in fact he carries my deletion. I tried calling and left a message at the time but no one ever called me back. I was like how can he not be a carrier when I myself have Locah? Then at NIH we discovered that they actually both carry a deletion. My daughter's doc wasn't any help either. They should have clarified this with the lab.

 Anyway so what do they say about her carrier results on the stim test?

M1




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