I had whole exome sequencing performed again.

My initial round of whole exome sequencing in 2018 couldn't have been normaller. I have a slowly progressive peripheral neuropathy. In 2022, through the efforts of the Unidentified Diseases Network, I had a repeat whole exome sequencing performed through the Baylor laboratory. I was found to have 2 missense mutations in TTN:: c.70712 C>A p.Ala23571Asp & c.28733C>T p.Thr9578Met, consistent with SORD hereditary neuropathy. As anticipated, my urine sorbitol was strikingly elevated.

See: https://childnervoussystem.blogspot.com/2018/05/i-had-whole-exome-sequencing-performed.html

https://childnervoussystem.blogspot.com/2022/02/sord-hereditary-neuropathy.html