Sunday, December 3, 2023

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.


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