DWQA QuestionsCategory: QuestionsCPT2 deficiency – identified gene mutations
Alisia Klimasewiski asked 4 years ago
Hi. I am not diagnosed with cpt2 but I have had the symptoms on and off my whole life. I ran my genes trough promeathis and found I gene 1799821A/A should I have further testing? What does this gene represent? Thank you!

1 Answers
INFORM Physician answered 4 years ago
It would appear that this result was obtained through a direct to consumer DNA testing company. Such testing is not approved for clinical purposes and should not be used to make a medical diagnosis. If you have symptoms suggestive of CPT2 deficiency then you should receive a complete medical evaluation by a specialist in genetic muscle disease. This can be a medical geneticist or metabolic specialist. In some institutions, it may be a neurologist specializing in muscle disease. I hope this helps. Dr. Vockley