I have had Genetic Testing
1. There are people who were told they had CMT by multiple providers, who do not actually have a hereditary neuropathy.
2. Be sure that you have a copy of your own genetic report.
A genetic report will look like a lab report and include the date of order, date of collection, date of report, ordering provider, and name of the genetic testing lab.
If you do not have a copy of your report, it is easiest for you to go directly to the lab the test was sent to. *HINT* If you received your testing before 2009, the lab your testing was sent to was probably Athena Diagnostics. You can call the lab to find out how to obtain a copy of your report.
3. Learn about how to understand your genetic report by watching this video.
- If your results were positive, you probably have CMT if the inheritance pattern and nerve conduction pattern match up.
- If your results were negative, you might still have CMT, or you might not.
- If your results were uncertain, you might still have CMT, or you might not.
- It may help to have relatives with and without symptoms be tested to determine if the uncertain genetic change is tracking with disease or not.
- To confirm in either case, you should seek evaluation by a neurologist at a HNF Center of Excellence to confirm if you have CMT or another form of peripheral neuropathy.
- If you have ever had a nerve conduction study/electromyography (NCS/EMG), be sure to locate a copy of your report to bring to your neurology visit. The NCS/EMG is a procedure where the electrophysiologist places electrodes and/or needles along various points in your arms and legs to determine if electrical impulses are properly being read and processed by your nerves and/or muscles. If you have not had this test, it might be necessary in order for the neurologist to give a definitive diagnosis.