I'm wondering what the current consensus is on the best testing to identify a methylation block (and thus determine who might benefit from the protocols discussed here). From what I gathered from searching the archives, the two recommended tests are the Genova Diagnostics Metabolic Analysis Profile and the Vitamin Diagnostics Methylation Profile. I can't find any information about the VD panel online, so I just wanted to check and see if it's still available, and still recommended.
Would screening for MTHFR with something like 23andMe be helpful as well?
Hi, switters.
As you can probably see, we don't really have a consensus here about this, at least not yet.
If the goal is simply to determine whether there is a partial methylation cycle block, I would suggest running the Health Diagnostics and Research Institute (formerly Vitamin Diagnostics, Inc.) methylation pathways panel. This is a blood test, requires an order from a physician or a chiropractor, and costs $295, including the mailer to ship the samples to the lab from within the U.S. The contact information and a guide to interpretation of the results can be found in Part 7 of my documents (in the General Wiki pages of these forums, accessible at the bottom of the "Forum" page). This panel was designed specifically for this purpose, and is used in both autism and ME/CFS. It gives direct information about the status of the methylation cycle, the folate metabolism, and glutathione. Dr. Neil Nathan, M.D. and I have validated this test in a clinical study, in which we showed that the simplified methylation protocol gave significant improvement over the course of a 6-month period as measured with this panel and with patient rating of symptoms. A report on this study can be found here:
http://www.mecfs-vic.org.au/sites/w...Article-2009VanKonynenburg-TrtMethylStudy.pdf
Beyond this panel, if it is desired to obtain additional data that can help in treatment decisions, there are some other tests that can be helpful. As Freddd mentioned, extensive testing can be costly. For some patients, the costs are not a problem, and they can order what they want. For most, this is not the case, and they need to prioritize and get the most value they can for the resources they have. I would suggest the following additional tests, if the resources are available, starting with what I think is the most helpful and cost-effective, and working down to others that are helpful if it is feasible to run them:
1. Genova Diagnostics Metabolic Analysis Profile or MAP (This is a urine organic acids test. Somewhat similar tests are the Metametrix Organix panel and the Great Plains Lab OAT.) This type of test looks at several aspects of the overall metabolism, and can give information about vitamin and mineral deficiencies. The MAP includes both methylmalonic acid and formiminoglutamic acid and can therefore give indirect information about the status of the methylation cycle and the folate metabolism. This panel can also give indirect information about the status of glutathione.
2. Plasma amino acids panel. I like the Metametrix 40 plasma amino acids panel, because the printout is easy to interpret, but Life Extension offers a 40 plasma amino acids panel at a lower cost. Genova Diagnostics offers one with 42 amino acids. Doctor's Data offers one, also. I like the plasma data, because it's closer to the cells. However, the urine amino acids data is helpful, also. It is more sensitive, but requires some interpretation, because it depends on kidney function. It's very helpful to have this one together with the organic acids panel, because they help to interpret each other.
3. Toxic and essential elements. I have most of my experience with the Doctor's Data urine panel, but there are others, for both urine and blood (whole blood or red blood cells). These panels are helpful for detecting mineral deficiencies as well as assessing whether toxic metals are an important issue in a given case. If the toxics are too high, they may prevent lifting of the partial methylation cycle block. There are also hair tests for minerals and fecal tests for toxic elements that can be helpful.
4. If there are problems with the digestive system, comprehensive stool testing is needed. I like the Diagnos-Techs Expanded G.I. Panel, but there are also stool tests offered by Genova Diagnostics, Metametrix, and Doctor's Data.
5. Beyond these, there are other tests that I suggest depending on the issues that a particular person has. If Lyme disease or its coinfections seem like a good possibility, then I suggest Igenex testing. There is a new culture test offered by Advanced Laboratory Services that promises to be more definitive. If mold or other biotoxin illness seems like a good possibility, I suggest the visual contrast sensitivity test offered by Dr. Ritchie Shoemaker at
www.chronicneurotoxins.com, and if it is positive, then an ERMI test of the home by
www.mycometrics.com and the HLA panel by LabCorp. If hemopyrolactamuria (HPU) looks like a good possibility, then I suggest the HPU test from Health Diagnostics and Research Institute. If heavy metal toxicity looks like a good possibility, then I suggest a DMSA-provoked urine collection test, as from Doctor's Data. If entrenched viral infections appear to be present, then I suggest serum immunoglobulin testing for the range of viruses commonly found in ME/CFS.
There are others, but I think I will stop here. There are some combination profiles, such as the Genova Diagnostics NutrEval profile, and the Metametrix ION profile. These incorporate some of the above tests and some others. They may not be optimum sets of tests, but the combinations can be less expensive, and a lot can be learned from them, especially about nutrient deficiencies, but also about the metabolism in general.
I view the genetic polymorphism tests as interesting and as having a lot of potential for the future. Amy Yasko's nutrigenomic panel can be of some help, as can the less expensive but more comprehensive 23andme.com panel. These give tendencies, but do not give direct information about what is actually going on in the biochemistry at present. They can be helpful in trying to understand why a particular person became ill.
The interpretation of the above tests is not always straightforward. It takes some experience to understand how they fit together. The book that is sold by Metametrix is very helpful, but it is also necessary to understand the biochemistry of ME/CFS to properly interpret these tests, and that is not included in the book.
Best regards,
Rich