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

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by juniemarie, Jan 22, 2010.

  1. roxie60

    roxie60 Senior Member

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    Central Illinois, USA
    My last few posts maybe getting of topic so if moderators can find a more appropriate thread to move these to (suggest any related to B12 and cobalamin or genes related to B12 like TCN2 - let me know where they get moved to, thx)

    Here is an interesting study and discussion of child with TCN2 issue treated successfully with high frequent dose of hydroxycobablamin. Well written, fairly easy to understand.

    http://bloodjournal.hematologylibrary.org/content/66/5/1022.full.pdf
     
  2. Little Bluestem

    Little Bluestem Senescent on the Illinois prairie, USA

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    Would your doctor do (F)T3 along with THS and (F)T4?
     
    Crux likes this.
  3. Sea

    Sea Senior Member

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    The tag snp for DQ2.5 (which is found in at least 93% of people with celiac and around 50% of the general population) is rs2187668 risk allele T. This is the only one 23andme report on though you can find snps for some of the other risk haplotypes.

    Promethease flagged me as having the DQ2.2 haplotype (accounting for around 5% of celiacs) but 23andme only test for 2 out of the three snps, so I don't think I can be certain on that one. It frustrates me when 23andme doesn't quite have enough info for something. Bring on affordable whole genome sequencing!

    http://www.plosone.org/article/fetc....1371/journal.pone.0002270&representation=PDF
     
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  4. roxie60

    roxie60 Senior Member

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    Struggled to read this paper but I have the DQ2.2 rs2395182 (T;T) but rs2187668 is CC. It seems the study is saying rs2187668 (T) to be celiac. It seemed part of the paper indicated they were not certain of all the potential relationships in the halotype and ability to predict CD. Really could not determine a conclusion other than if you have the Dq2.5 and one of the DQ2.2 snps then you are a candidate for C. But my brain is mush tonight so I might be getting that wrong.
     
  5. roxie60

    roxie60 Senior Member

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    did not see an answer but Mitochondria/ATP - is there a blood test for this?
     
  6. Sea

    Sea Senior Member

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    DQ2.5 doesn't make you celiac but it does raise your risk greatly. It contributes to risk by itself and in combination with other haplotypes and is by far the most common haplotype in celiac.

    DQ2.2 contributes a small risk, mostly in combination with a few other haplotypes. To have DQ2.2 you have to have the risk alleles for both snps (rs2395182 T & rs7775228 C) and not have rs4713586 C (if you have rs4713586 C you are a DQ4 with almost no risk - but 23andme doesn't test this one)

    http://snpedia.com/index.php/Gs221/criteria

    Around one percent of people diagnosed with celiac do not have any of the risk haplotypes
     
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  7. roxie60

    roxie60 Senior Member

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    The Endo only requested FT4 and TSH. Kinda surprised me as well.
     
  8. roxie60

    roxie60 Senior Member

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    So here are the tests I got approved to take tomorrow (2nd to last day of insurance coverage :))

    - TSH/ FT4 - (will be done end of October - expect new 'expensive ins' to kick in by then)

    - MMA - methylmelonic Acid - urine
    - Cortisol AM
    - ACTH
    - B12 serum (was told no on Holo-TC - preapproval required, probably expensive, explained the test to nurse)
    - D3
    - Estridiol
    - Progesterone
    - Ferritin
    - Iron
    - 5-HIAA (urine)
    - ALT/AST
    - CoQ10
    - HLA DQ2/DQ8 (told her I did not need this since I already had 23andMe)

    Dr also added CD 8 - CD 57

    Going on record, based on how I feel compared to last Cortisol and ACTH, I expect my AM serum Cortisol to be higher and maybe ACTH also since they are related. I expect Estridiol and progesterone to be higher since I have been taking them. B12 (high) and D3 should be in range. I would like to think AST/ALT are lower (it was 50 during or just prior to my crash period). The others I have no idea.

    Fasting, also no supplements will have been taken for nearly 24 hrs (synthroid) - 48 hrs (all others).
     
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