Telephone Ann Carlson, MS, Genetic Counselor, at (212)746-3495 or via email at:
acarlso@mail.med.cornell.edu
If you get voice mail, you may speak to a secretary at (212)746-3450.

Both parents have to carry the gene for CAH and then there is a 1 in 4 chance that the child is a carrier or has CAH. So is the half -sibling "both" parents willing to be tested?

Ask Dr. Maria New’s office some questions:

Is the genetic testing only tests for certain types of CAH. And is 95% accurate. Accurate for what types of CAH? What types of CAH?

Both you think that the other testing is important, too?  60-minute cortisol challenge test? The Metyrapone (metapirone) tests that test the entire hypothalamic/pituitary/adrenal axisis... since genetic testing may not be 100% accurate.

25% of all CAH kids have parents or relatives that are affected with non-classical CAH.  Can be very mild and not even require treatment .... but they could have CAH....  What does that mean? Can very mild non-classical get worse or adrenal crisis during surgery or injury or severe illness?

What relatives should be tested - aunts, uncles, grandparents?

These might be some good questions to start with ... besides the obvious question - should a half sibling be tested?