Genetic testing for inherited neuropathies

This summer when I saw my neurologist for a routine post-polio checkup, she asked whether I would be interested in participating in a large scale study of genetic screening for peripheral neuropathies.  Since I have some atypical (sensory) deficits and it seemed reasonable to rule out concomitant non-polio etiologies, I agreed.  There was no cost to me or my insurance for the testing, I believe because the project is still in the investigative stage where they are trying to establish the sensitivity and specificity of the findings in a test population with known disorders.

Here are my results:

So, as an incidental finding, I'm a carrier of an autosomal recessive gene for Charcot-Marie-Tooth disease.  This is of no clinical relevance for me, and since I have no children, the gene dies with me.

I'm not posting this as an endorsement of Invitae, and I certainly wouldn't recommend that everyone go out and get tested for everything.  But the information is worth sharing with my extended family, and with readers of the blog who might have an unexplained peripheral neuropathy, or a family history of a known disorder.  I am recurrently amazed at the advances being made in the field of medical science since my retirement from the profession.