Here is a list of possible genetic tests available, I chose this particular lab at random
Wow! this is super cheap. I looked into the Athena lab in Georgia at it could have been anywhere from $3500 up to over $10,000. Have you sent a sample of yet?
I had genetic testing done. Not sure of technical names. They took about 5 tubes of blood and sentvbit of to a lab to look for a mutated gene I believe. The genetic counselor explained some things to me about DNA,genes,mutations and who knows what else. After several months I rec'd an 11page report explaining in scientific terms how they found gene for The CMT1A. It was all clear as mud.
I did not have to pay because they approached me but they said it cost 17,000.00Hi Nique, I don't have CMT, I'm just a helping hand here, but hopefully other members who have gone through genetic testing will reply.
Hope you're having a good day!
I am not sure...all I remember was so much blood was drawn and it took 3 months for results.
My type was suspected to be CMT1 but then genetic inheritance through my father from his mother indicated CMT1X. However, since I've determined I may also have more than 1 mutation of which the second, I'm uncertain. My mother's family show mild signs of possible CMT (none officially diagnosed but some have had surgeries for Fascia Plantar and other things related) and given the background is a very real possibility.I've not been through genetic study but my type was verified positive for CMT1X as well but my son is inconclusive, and indicates I may have passed another type or mutation to him. My oldest daughter is a carrier, evidently, b/c oldest granddaughter presents very similar signs to what I had at her age. Learning more all the time about my family but nothing they can tell me about CMT. No one else diagnosed until me that I can find. The only thing mentioned as for a chronic disease was Tourettes.
~~CM
This is much more complicated than I had imagined. I imagine it would be easy to spend vast amounts of money to have all tests relating to CMT.
I believe that there are organizations that may cover at least some of these costs. NORD may be one.
My kids were tested through Athena but MDA paid the tests b/c I'd been confirmed and 50/50 chance of each offspring. MDA picked up the tab twice for my son b/c he was inconclusive. Shriner's sometimes will work with CMT children.
~~CM
Thanks, that’s good for everyone to know!
I was tested through GeneDX. Since my mom has CMT1A (a duplication of the PMP22 gene and the main cause in 70-80% of people with CMT) the only test I had to do was PMP22 Del/Dup which only cost me around $500 (actually is about $100 out of pocket - after insurance and healthcare spending account coverage). For me, that was the definitive test. If it isn't for you, you might have to do other tests (there are a number available) to determine your exact cause. The exact genetic cause may help you understand the progression of your disease but CMT progression (even within families) is highly variable so it might not give you anything more than a "talking point" or a way to identify your particular cause when talking to others.
The Charcot Marie Tooth Association has more info about GeneDX and you should read this page to see if you really want genetic testing. It isn't necessarily desired by everyone.
I know that people with EDS Ehlers Danlos Syndrome go through extensive genetic testing to confirm diagnosis. Relatives are brought in for testing as well. They want entire family histories and testing.
I happened to run across this organization, and was surprised that CMT was not listed