NeuroTalk Support Groups - skin biopsy and CMT

Hi Amit. DNA blood tests are about the best tests to rule CMT in or out. They are thru http://www.athenadiagnostics.com They are expensive but I believe they have a plan to help with the cost. They are more expensive when they do the whole panel of tests for the types that they now can test for. It will also give you the sub type. I believe there are 22 + types that they can now test for. Your insurance may also allow for the tests. And perhaps the MDA if you are registered with them and see an MDA doctor. If you should in all probability have CMT but have a type that they cannot test for, then the DNA blood tests would not give the type.

CMT is under the umbrella, so to speak, with the MDA. CMT is among the 40 or so neurological diseases under the MDA.

There are over 50 types of CMT identified and the list is growing. However, not all can be tested for - just the 22 + types.

Another test is an EMG/NCV. That will give a pretty good indication but it will not give the sub type. But it might be a place to start.

The type of skin biopsy they do now is much easier than in the past. In the past, it could leave you numb in the area and wasn't recommended by most neurologists who know CMT.

Whatever you do, you need a neurologist who knows CMT. That is very important because lots of neurologists and other doctors do not really have a clue. He/she can also base the findings on family history and an EMG/NCV. Hope you find an answer.