• Welcome to Phoenix Rising!

    Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.

    To become a member, simply click the Register button at the top right.

Mitochondrial testing in the USA?

Hi there,
I currently reside in Minnesota, and I was wondering if anyone has any experience on getting Mitochondrial testing done? I have no idea where to start, but really want to see if I can get useful testing done to determine if this is a major issue for me and develop a treatment plan accordingly. My GP doesn't know what to test, but is willing to order things.
Thanks!
 

Learner1

Senior Member
Messages
6,305
Location
Pacific Northwest
I did a MitoSwab mitochondrial function test, which tested mito content and complex I-IV function. I think they'll be adding complex V soon. The company is in PA, and has done work with Children's Hospital of Philadelphia on autistic kids, and dies work with patients with neurodegenerative disorders.

I also consulted with Fran Kendall in Atlanta, who recommended other tests aimed at identifying primary mito disease, including a muscle biopsy, SFN biopsy and nerve conduction test, but a long list of others, too.

The most useful test for me was the GeneDX whole exome sequencing and mtDNA testing. However, you could get the same info, I believe from Dante Labs or Veritas, who ate consumer-oriented. Veritas is dropping their price, I believe.

The other useful testing has been HDRI's nitrotyrosine and nitric oxide test, which indicated that I have high peroxynitrites which can impair complex I and damage mitochondrial membranes. This, paired with a Genova Diagnostics NutrEval, which showed huge oxidative stress, high lipid peroxides, and high 8OHdG, a market of DNA damage, agreed with the researchers findings of high oxidative and nitrosative stress causing peroxynitrite damage, gave my doctors and me a roadmap of how to treat me.

We repeated these tests 9 months later, and my mito function, though still having some problems, dramatically improved, along with my energy, showing the treatment worked. I am continuing treatment and plan to retest in another couple of months.

I am glad I pursued this path - it has been very useful. Feel free to PM me if you have specific questions.
 
@Learner1 Thanks so much for your help! Very interesting! I did the Genova Nutaval testing and nothing came up for me so my doc doesn't think I need testing. I am near the Mayo clinic in MN and see they have Mitochondrial testing there so I am tempted to ask for a referral. Man, why are all these tests so bloody expensive...arg.

Very happy to hear that it's been useful for you, gives me hope!
 

Learner1

Senior Member
Messages
6,305
Location
Pacific Northwest
You are welcome!
I did the Genova Nutaval testing and nothing came up for me so my doc doesn't think I need testing.
I've seen dozens of NutrEvals and have never seen one where "nothing came up."

Did you get the "Physicians Copy" of the results with 12 pages of explanatory test folowing the colorful pages or just the dumbed-down "Patients Copy" which is pretty useless? They typically sign up new foctors without that box checked to get it. And, a lot of doctors don't know how to interpret it.

You csn calm them and ask for it. Even do, if you want to PM me with what you have, Id be happy to take a look and see if you doctor may have missed a clue...
 

vision blue

Senior Member
Messages
1,935
One puzzle piece not to miss for mitochondrial testing is to do FTDNA compelete mitochondrial genome. It is direct to consumer and you will get all 16,000 plus positions along the mitogenome and can look up every single variant you have to see if it is non-synonmous or not and if associated with any pathological condition. In addition, the procedure now picks up very small amounts of heteroplasmy (mixture of dna types at the same position) which is more likely than not to accompany genetic mitochondrial disorders. just to be on safe side, when you get the results, its also worth calling or emailing them to ask them to doublecheck for any heteroplasmy and make sure they reported it.

the downside is that it uses buccal cells (cheek swab) rather than blood or muscle tissue. Alot of the time genetic mitochondrial disorders are more likely to show up in the latter . i can explain why but i'm running out of steam.

but since its realtively cheap and you can ordrer it and figure it out on your own, its a no brainer worth doing for anyone suspecting a mito disorder. and of course anythign found can be followed up by having a (more expensive) official clinical lab re-check more carefully the region that turns up with a non-synonmous potentially pathological mutation. (any dna test that tests large regions has to be rechecked with smaller regions for accuracy). I've run of course myself and have analyzed about a 100 other peoples' mtdna sequences at least.

You didn't say whether you suspced a germline (inherited) or somatic (acquired) mito mutation ( or why you suspect a genetic mito disorder at all might be a possibilty).

you can also try to assess mitochondrial function as a seperate question from the genetics. I am not sure how reliable/accurate the OAT test (organic acid test) from great plains is. That one I've run on myself.

ok, im too tired to type more or to make this clearer.

(I have no affliation with either FTDNA or Great Plains)
 
Last edited by a moderator:
Back