Sunday, February 9, 2014

Pursue FoxG testing?

Andy's geneticist did not want to test Andy for FOXG syndrome. He felt the symptoms were all too general and that anyone could fit the symptoms. I disagree, and am not sure about how to further pursue testing. His neuro is saying Andy needs whole exome testing, but we are not going to pay 10 thousand dollars for this. I've looked online for a kit we could use ourselves for the fox testing, but can't find one. I might have Andy return to a past neuro and ask his opinion on further testing. Fox g was a test I felt would be worthwhile, but when professionals don't agree, I don't know what to do.

4 comments:

  1. If it were me, I would get a second opinion with another geneticist. If they both agree, then I would trust their expertise.

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  2. My son had his entire genome (or maybe exome) done for about $400. We received his Combimatrix kit from his neurologist. Combimatrix fought hard to get the insurance to pay the $10k+ bill, but failed so they charged us the maximum out of pocket ($400 I think). If you get the testing done, I recommend calling the testing company first to verify the max amount you would be expected to pay.

    The major drawback from getting the test done is that you may be left with more questions than answers. The test finds all abnormalities- major and minor. For example, along with the foxg1 issue that was found, I now have to wonder about another microdeletion asssociated with adult onset hearing loss. And his geneticist isn't able to tell me how likely it is of occurring.

    Best of luck...

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  3. Whole exome sequencing gave us no answers. Insurance denied it, but approved it after one appeal. My guy is 2 GDD, tube fed, no diagnosis. Still can't get into sitting on his own, crawl, walk or talk.

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