re: genetic testing
Oct. 15th, 2003   6:49pm

I don’t know where you are located but it might be worth it, if you are near DC, to contact NIH.  Normally they would not take you unless you were in one of their studies but we got in because sometimes they will give you a "second opinion" on your treatment  and do DNA testing because they are training another doctor.   Cornell sometimes gets grants and use part of it for people that might not be able to afford the testing.  We could have done either of them but went to NIH because they are only an hour away and send their tests to Cornell anyway!

Our first results said that none of us had CAH so they sequenced our genes.  Our daughter received a very rare  frameshift and equally rare deletion that would be undetected in any normal testing.  It is really to their benefit to try and help because it ads to their database.  Mine was rare, but because more people are getting into the database, I actually saw it on the net recently.  If they only took people that could afford to be tested they might only get rich people mutations! Heh, just kidding. 

Anyway, yes, it can tell you which enzyme is impacted.  Like mine was tryptophan (sp?).  If that is what you meant.

 

Take Care,

RebeccaM

 

 

 

RebeccaM
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