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Full Sequence mtDNA and mitochondrial disorders

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  • Full Sequence mtDNA and mitochondrial disorders

    I recently ordered the full sequence mtDNA but have not recieved the results yet.(T2-batch 308) .

    I have read that the Full Sequence mtDNA can show mitochondrial disorders if they are present.

    Would the full sequence mtDNA test show any mitochondrial disorders? Would FTDNA report them or would the customer have to look for it in the results themselves?

    Thanks,
    Brian

  • #2
    Originally posted by brian87 View Post
    I recently ordered the full sequence mtDNA but have not recieved the results yet.(T2-batch 308) .

    I have read that the Full Sequence mtDNA can show mitochondrial disorders if they are present.

    Would the full sequence mtDNA test show any mitochondrial disorders? Would FTDNA report them or would the customer have to look for it in the results themselves?

    Thanks,
    Brian
    If you read in the FAQ section on the FTDNA page you will find a very good answer to this question.

    I don't think they would report anything like that to you..... but you never know.

    The FAQ page should be helpful, it might answer this question.

    Good luck in your searches,
    spruithean

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    • #3
      fyi

      Originally posted by spruithean View Post
      If you read in the FAQ section on the FTDNA page you will find a very good answer to this question.

      I don't think they would report anything like that to you..... but you never know.

      spruithean

      They report values but do not explain their significance. Nor do they upload those values to YSEARCH. Separately some of us obtained "reads" privately before deciding whether to upload our results to GeneBank. I am not knowledgeable enough to confirm whether a knowledgeable person can read the undisclosed significance into what is reported publicly, but my understanding is that the answer is no.

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      • #4
        We are lucky to have a forum member, Dr. Ann Turner.

        http://forums.familytreedna.com/member.php?u=126

        She created an excellent report of my FGS results. She has done this for many folks.

        Her fees are quite reasonable, and should not be discussed in a public forum.

        I suggest you contact her via the link I've included above. She'll explain what she does and does not do with the data that you provide, if you choose to do so.

        Comment


        • #5
          Originally posted by rucksack View Post
          We are lucky to have a forum member, Dr. Ann Turner.

          http://forums.familytreedna.com/member.php?u=126

          She created an excellent report of my FGS results. She has done this for many folks.

          Her fees are quite reasonable, and should not be discussed in a public forum.

          I suggest you contact her via the link I've included above. She'll explain what she does and does not do with the data that you provide, if you choose to do so.
          Yes, rucksack is right. I recently got Ann Turner to do a report on my FGS mutations and I was delighted with it. The report was very informative and it was also easy to understand.

          Comment


          • #6
            While I don't know much about disorders caused by mitochondrial mutations, I expect one would know one had such a disorder in advance of test results.

            Comment


            • #7
              A male relatives of my maternal line branched off a few generations before and is of an older generation have the mtDNA HG J* mutation that causes a form of blindness, and they have that blindness. Though the mutation within J* itself is unstable and crops up only now and again even within the same few generations of the same J mtDNA line. I do not have it, the phenotype for this blindness displays more in males than females, luckily as an mtDNA J male who is of an mtDNA line which actually has living instances of the disease, I do not have it.

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              • #8
                Nagelfar,

                Thanks for posting that.

                This is the type of information that can be gained by having Dr. Turner do a report... she'll explain that not all mitochondrial disease "markers" are necessarily a given that the the disease will manifest.

                The reports are about lots of other interesting information too, and she presents it in straight forward language.

                Comment


                • #9
                  Originally posted by rucksack View Post
                  Nagelfar,

                  Thanks for posting that.

                  This is the type of information that can be gained by having Dr. Turner do a report... she'll explain that not all mitochondrial disease "markers" are necessarily a given that the the disease will manifest.

                  The reports are about lots of other interesting information too, and she presents it in straight forward language.
                  What other type of information does the report include? I am not very interested in disease markers, my mitochondrial line seems very healthy, it has several centenarians in it. Besides, the last thing I want is something else to worry about. But I am sure Dr. Turner will add some interesting information. I just want to have an idea as to what she usually includes.

                  Comment


                  • #10
                    Originally posted by JuanCarlos View Post
                    What other type of information does the report include? I am not very interested in disease markers, my mitochondrial line seems very healthy, it has several centenarians in it. Besides, the last thing I want is something else to worry about. But I am sure Dr. Turner will add some interesting information. I just want to have an idea as to what she usually includes.
                    For instance, what exact markers define what subclades, and then far deeper than the ones that FTDNA gives.

                    Comment


                    • #11
                      If there are sequences in publication with your same differences to the rCRS, she will also point them out to you. If you have differences that have been seen in other haplogroups, but not your own, she'll discuss them so you can understand their meaning.

                      Really, it is a very inexpensive way to get a very comprehensive report.

                      Comment

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