Friday, July 30, 2010

DNA Testing

Since I have not gone into another attack after stopping my birth control pills (estrogen) and changing my diet, I can't get my diagnosis. So after talking at length with Dr. Premier, we have decided to send my blood off to New York for a stay at Mt. Sinai's genetics department.

Mt. Sinai is the ONLY facility in the United States that performs DNA testing on all of the Porphyria types. Thankfully, we have mine narrowed down to VP or HCP, so only these two tests will be ordered. I should know my diagnosis in 2-4 weeks.

Sidenote: DNA testing is 97% accurate and can sometimes miss rare mutations of Porphyria. After everything I've been through...please don't let me be in that 3%.


  1. At least you have a good idea on how to keep from having attacks!! However, a littl bitter sweet huh? I have my 5th urine test underway but I was looking at the DNA option....I don't have insurance so I hope you don't mind me asking, do you know how much it costs?

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  3. Hey Melissa. I know how you feel... getting this diagnosed is such a process. Dr. Premier called me the other day and said he had reviewed my medical records from the past year and realized how sick I was. Because I had such a severe attack, he is worried that the next attack might bring permanent damage, that's why we are resorting to DNA tests. The DNA tests are not covered by insurance, even if you have it, and it's pretty costly at $800 per type tested. You can read more about it on the APF's website. I'll post more about my experience as it happens! Good luck!