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Genetic Testing Road Block

Posted Oct 17 2008 9:01pm

I had thought that I would be able to have my genetic testing done through my OB/GYN's office this week for the mitochondrial abnormality that was found in Drew. I thought when they told me their lab ran this test it was too good to be true, as it is a very rare abnormality. It turns out that I was right. Their laboratory will only run the test for the connexin 26 abnormality, which I already know I carry. It is the testing for the mitochondrial abnormality that is crucial for me to know in order to understand my risk and my daughters risk of aminoglycoside induced deafness.

At this point, I am very frustrated. It seems to me that it should be easier to have this testing run. And it seems that I am the only one concerned about getting results, maybe because it is my hearing at risk. I do not know what else to do at this point. I have contacted Dr. Choo's office on several occasions regarding this testing, and his nurses tell me that in order for Cincinnati Children's to run the test I will have to have an audiogram test. They referred me to my primary physicians. Now I know that they do not have the capability to run these tests, my only option may be to have the testing run in Cincinnati.

I am going to talk with Dr. Choo about this at our CI consult on January 22nd, since he is the one that told me I needed to be tested. My hope is that he will order the test that day or refer me to a geneticist for further evaluation.

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