janet

sorry i a few days behind all of the other replys.  i just wanted to tell you that a wonderful person to talk with regarding cah genetic testing is ann carlson at cornell university hospital.  she is very helpful!!!  we had my son genetically testing.  what i am telling you is what i think is right.  when they do genetic testing there are two different types of muatations exxon and intron (then there are several different ones of each of those)  if your child has two exxon mutations or two intron mutations he is said to be homozygous (meaning the same type)  and if they have different mutations then they are considered to by heterozygous.  my son has an exxon mutation and an intron mutations so that would make his mutation heterozygous.  if it was me would diffently get the genetic testing done.  you don’t have to go to the endo to have it done, you could go to your regular dr.  they just need to draw the blood and send it.

i wish you the best

tonya