All the different test's, can we list them?

[Valentijn]

[Just make sure the testing does not involve and old fashioned TTT - the 45 mins upright that make you faint and provide no real evidence - you need regular blood pressure measurements and upright time limited to 10 minute bursts.]

This is completely wrong. The 45 or 60 minute duration is needed to detect Neurally Mediated Hypotension. NMH is typically delayed, and is very common among ME patients - even more so than POTS.

 

[Goodness to M.E.]

I suggest you have a look at the below posting: Is it worth explaining the difference between ME and CFS to the public?? CFS Misdiagnosis Dr Mirza's tests detail............it lists a good starting point for tests and $ savings. I tried to change the heading but dont know how?.....cheers

 

[roxie60]

Help - need quick feedback. My employment insurance ends at the end of the month and I am working to get other ins but not sure if or when effective (looks like it will be $600/m and I still have no income). I am planning to call my doctor this morning and request a final battery of tests (some to see where I am at and others would be new for dx purposes). I would appreciate any input on if I am missing any you think would help with dx (since we still are looking for causes) and which ones are a waste of money/time (if the ins will cover). TIA I did look through this thread. I did not see anyone define what VIP or ESR stood for.

- TSH/T4 (or FT4) - on Synthroid generic for 16 days, will shoot for blood draw late this month
- MMA - methylmelonic Acid - B vitamin related?
- HHVP - herpes virus panel or at minimum HHV6
- ANA - I had a crash that lasted about 7 weeks and lifted about two weeks ago, wondering if viral
- Cortisol AM - last three were low; also started Adrenogen
- ACTH - because getting Cortisol; I think they should go together
- B12
- D3
- Estridiol - been on patch since April
- Progesterone - been on BIH cream for a month
- Lithium - on Lithium Orotatefor two weeks
- Ferritin/Iron
- 5-HIAA
- ALT/AST - it was high in July
- EBV
- Mitochondria/ATP - is there a blood test for this
- TNF-Alpha - natural killer cell activity/function; how does this compare to NKCP?
- HTLV 1 & 2 - lymphotrophic viral profile
- Complete CFS panel - is this from a specific lab or are these blood tests (RNAP; RNAA;ELAS; NKCP;NOAS) - I do not know what these are exccept the RNase
- CYT1 Inflamation Cytokine profile - IL1Beta, IL2, IL6, I8, IL10, etc - are these useful for dx?
- Glutathione-S-transferase
- CoQ10
- HLA DQ2/DQ8 - celiac verification - this one might have been done; if so it was negative but told high percentage come back negative and people still have celiac.
- Heavy metals - is this a blood test or another lab specific panel?

I dont know if she will agree to all but this is what I have come up with. Please let me know if you think there are others that might be useful. In case you do not know I lost my career of 20 years so I am about to lose my healthcare coverage and want to get some final numbers in case it is awhile before I can test again.

 

[Crux]

Hi roxie60;

I would also suggest an 'active B12' test, also called Holo-TC. There are a variety of names for it.
I'm not sure if it is the most telling, but I think it may be helpful.

I believe it would be very important to show the doctor your snps, especially the TCN2 ones.

You've been describing, lately, some of the neurological manifestations of B12 deficiency. ( balance problems, gait difficulty, etc.) So, a neurological exam might be helpful. ( Even testing reflexes can be informative. Sometimes there is hyper-reflexia at the knee joint, but hypo-reflexia at the ankle. Trying to balance on one foot with eyes closed can be very difficult, or not possible.)

I realize that you have more than one condition, but I suspect that the B12 deficiency is undertreated, (more is needed), and that is what is causing some, (not all ), of the symptoms.

http://emedicine.medscape.com/article/1152670-overview#a0104

 

[roxie60]

Hi roxie60;

I would also suggest an 'active B12' test, also called Holo-TC. There are a variety of names for it.
I'm not sure if it is the most telling, but I think it may be helpful.

I believe it would be very important to show the doctor your snps, especially the TCN2 ones.

You've been describing, lately, some of the neurological manifestations of B12 deficiency. ( balance problems, gait difficulty, etc.) So, a neurological exam might be helpful. ( Even testing reflexes can be informative. Sometimes there is hyper-reflexia at the knee joint, but hypo-reflexia at the ankle. Trying to balance on one foot with eyes closed can be very difficult, or not possible.)

I realize that you have more than one condition, but I suspect that the B12 deficiency is undertreated, (more is needed), and that is what is causing some, (not all ), of the symptoms.

http://emedicine.medscape.com/article/1152670-overview#a0104

Crux Thanks Crux, I will add active B12 to the list since I do not know but I think the B12 in the past has just been serum B12 but not sure. My Dr has suspected that even though my B12 number is now very high that I may still not be benefiting. I gave her a list of my SNPs in August but I only just discovered the potential significance of TCN2 so I will bring that to her attention. I have had a neurologist evaluate me, do a neuropathy test(Neg) and simplified memory test, MRI and EEG, none showed anything at time of exam (figures when I need a symptom to happen they seem to disappear when I'm at a doctors office) other than white spots on the MRI dismissed as related to my migraines (which surprised me since I get them 3-5 times a year, the last one in November was a doosey and actually for once started while I was in a Drs office) .

Thanks for your suggestions.

 

[Crux]

It looks like your doctor,(GP?), has a much greater understanding of B12 deficiency than that neurologist. I'm glad about your primary physician, but, I would get rid of the neurologist.

The neurologist dismissed white spots on the MRI? Migraines? ( doofus )

 

[roxie60]

thx Crux. I was not familiar with holo-TC but this study has my attention now (will proabably print out for dr). wish i could access the full study ...not just abstract

http://www.ncbi.nlm.nih.gov/pubmed/20144600

The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations.

RESULTS AND CONCLUSIONS:

The studied polymorphism is common in the Portuguese population and significantly affects holo-TC but neither total B(12) nor total Hcy plasma concentrations, confirming that the TCN2 776CNG genotype exerts a significant influence upon B(12) cellular delivery.

my homocystiene has always been low, my serum b12 (total?) was deficient until I started getting shots and taking mb12 and mentanx. but i never seem to benefit as expected. so this maybe the reason, TCN2.

 

[roxie60]

Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism.

Abstract

BACKGROUND:

A common genetic polymorphism [transcobalamin (TC) 776C-->G] may affect the function of transcobalamin, the protein required for vitamin B-12 cellular uptake and metabolism. Remethylation of homocysteine is dependent on the production of 5-methyltetrahydrofolate and adequate vitamin B-12 for the methionine synthase reaction.
OBJECTIVES:

The objectives were to assess the influence of the TC 776C--> G polymorphism on concentrations of the transcobalamin-vitamin B-12 complex (holo-TC) and to determine the combined effects of the TC 776C-->G and methylenetetrahydrofolate reductase (MTHFR) 677C-->T polymorphisms and vitamin B-12 status on homocysteine concentrations.
DESIGN:

Healthy, nonpregnant women (n = 359; aged 20-30 y) were screened to determine plasma vitamin B-12, serum holo-TC, and plasma homocysteine concentrations and TC 776C-->G and MTHFR 677C-->T genotypes.
RESULTS:

The serum holo-TC concentration for women with the variant TC 776 GG genotype was significantly different (P = 0.0213) from that for subjects with the CC genotype (74 +/- 37 and 87 +/- 33 pmol/L, respectively). An inverse relation was observed between plasma homocysteine concentrations and both serum holo-TC (P </= 0.0001) and plasma vitamin B-12 (P </= 0.0001) concentrations, regardless of genotype.
CONCLUSIONS:

These data suggest that the TC 776C-->G polymorphism negatively affects the serum holo-TC concentration and provide additional evidence that vitamin B-12 status modulates the homocysteine concentration in this population.

 

[roxie60]

i obviously have some other methylation cycle raodblock because even though i have TCN2 776 my homocystiene is low which is a good thing.

 

[Valentijn]

Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism.

The p value is pretty marginal, despite that this was a large study, and the differences in serum concentration was also somewhat small with a large overlap. So while it probably does have some impact, it looks like a pretty minor impact.

 

[roxie60]

You're rainin on my parade Val . Ok back to reality. So I wonder about the 'minor' impact. What I am wondering is if I have had the B12 deficiency for many years (not saying it is my only issue and it had never been tested until 09?) what might be the cumulative affect (irreversible damage) due to undiag B12? Over time does / would this have cellular impact? Yes I am desperate to find answers to what is happening to me. That is a very strong title "TCN2 negatively affects B-12 metabolism" what in the abstract and figures had you conclude minor impact? Did you find a full version of the study? Just trying to understand what you saw so I can come to the same conclusion, I dont want to hand a paper tiger to my Dr and look like an amateur (which I am but trying to educate myself).

Did you look at the first study as well? It mentions significant impact. If you found full versions of these studies please let me know where, I would like to investigate further. Had to take a four hour break and lay down due to the 'its all in my head non-illness, exaggerated symptom of fatigue'. But I'm getting a little more strength so willing to dive into the rabbit hole on this one.

 

[Crux]

Hi roxie60;

I don't think the doctor will need a case report; I think a simple paper might be better.
http://www.uniprot.org/uniprot/P20062

It's impossible to find the perfect article, because they involve certain demographics with certain conditions.
http://omim.org/entry/275350#reference9

This article is good, but, the word 'frailty', doesn't seem specific enough.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042247/

Anyway, you've already been diagnosed with B12 deficiency, but the treatment hasn't been of a high enough dosage to stop the neurological symptoms. ( this is required of the doctor)

When you go for a test, it will be more accurate if you stop B12 for a time. This could be weeks long.
But, if you can stop for some days, and avoid high B12 foods, along with B12 analog foods, ( spirulina, chlorella, seaweeds), maybe it will affect the results.

B12 deficiency can result in permanent nerve damage, so I'm relieved that you are pursuing better treatment.

Best to you!

 

[roxie60]

I also wondered if it could cause some of my cognitive and memory issues as well.

 

[roxie60]

Crux So stop taking my B's for a week or so and then get blood test? Purpose? To see the level drop again? I'm missing what that will prove unless to show I will return to lower level of B12 without treatment?

 

[Sea]

roxie60 re the Celiac test you have listed. That is a genetic test so if you have had that and it was negative there is no reason to repeat it. Your genetics won't have changed.

It is rarely possible to have celiac without the most predisposing genotype so actual testing for celiac could still be worthwhile if you suspect that it could be a factor.

Also, even if celiac is ruled out it is still possible to be gluten intolerant which can have just as detrimental effect on life as celiac.

Your 23andme health report will include a risk for celiac. They only report on DQ2.5 which is the most common genotype for celiac.

 

[Crux]

Crux So stop taking my B's for a week or so and then get blood test? Purpose? To see the level drop again? I'm missing what that will prove unless to show I will return to lower level of B12 without treatment?

I'm wondering why you are requesting a serum B12 test then? Hasn't it been elevated before, after you began B12 supps.?

All of these listed test results will be affected by what you are taking, be it hormones, meds, supplements, etc.

Yes, B12 has an extremely strong effect on cognition, memory, moods, etc.

 

[roxie60]

roxie60 re the Celiac test you have listed. That is a genetic test so if you have had that and it was negative there is no reason to repeat it. Your genetics won't have changed.

It is rarely possible to have celiac without the most predisposing genotype so actual testing for celiac could still be worthwhile if you suspect that it could be a factor.

Also, even if celiac is ruled out it is still possible to be gluten intolerant which can have just as detrimental effect on life as celiac.

Your 23andme health report will include a risk for celiac. They only report on DQ2.5 which is the most common genotype for celiac.

Sea Do you have specific SNPs, I can look them up in 23andMe, thx

 

[roxie60]

I'm wondering why you are requesting a serum B12 test then? Hasn't it been elevated before, after you began B12 supps.?

All of these listed test results will be affected by what you are taking, be it hormones, meds, supplements, etc.

Yes, B12 has an extremely strong effect on cognition, memory, moods, etc.

Crux Yes it has been elevated since I started taking shots/ supps, over 1500 at times. It went up really high even with cobalamin shots(2x's per month) which she then thought were not helping, then did MTHFR test. I see now after you mentioned it that Holo TC is different than serum B12 which is what I believe we have been testing.

 

[roxie60]

Hi roxie60;

I don't think the doctor will need a case report; I think a simple paper might be better.
http://www.uniprot.org/uniprot/P20062

It's impossible to find the perfect article, because they involve certain demographics with certain conditions.
http://omim.org/entry/275350#reference9

This article is good, but, the word 'frailty', doesn't seem specific enough.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042247/

Anyway, you've already been diagnosed with B12 deficiency, but the treatment hasn't been of a high enough dosage to stop the neurological symptoms. ( this is required of the doctor)

When you go for a test, it will be more accurate if you stop B12 for a time. This could be weeks long.
But, if you can stop for some days, and avoid high B12 foods, along with B12 analog foods, ( spirulina, chlorella, seaweeds), maybe it will affect the results.

B12 deficiency can result in permanent nerve damage, so I'm relieved that you are pursuing better treatment.

Best to you!

Found this study, figure one does a nice job of summarizing.

http://qjmed.oxfordjournals.org/content/102/1/17.full

 

[roxie60]

Multiple links to abastracts on TCN2 (iHOP), WARNING: have to have a clear brain to get through this collection of links. iHOP can be used to search for any gene related abstracts. Just a research tool if ya can handle it.

http://www.ihop-net.org/UniPub/iHOP/gs/92595.html