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Genetic Testing

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Elinor,

1) Ask for your husband to be retested, at no charge to you or your insurance.

Bear in mind there are about 45 substypes of CMT and only about 12 can show

accuracy in the DNA test. Even fewer types have pre-implantation genetic

diagnosis available.

2) If his doctor still thinks he has CMT 1, did you ask why? What

were the results on his EMG/NCV? Did you see the EMG/NCV report? What were the

firing ranges and what did the report say?

3) You might want to inquire about a nerve biopsy or even a spinal

tap at this point - assuming the doctor still thinks this is CMT 1.

4) Have your husband and his son been to a genetic counselor? His son

does need to know about his possible inheritance of the CMT gene.

Another way to go would to ask his son to be tested.

I'd pin the doctor down and get more proactive on the CMT 1 issue.

You may also want to get a second opinion on this too.

~ Gretchen

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