Viewing 5 posts - 1 through 5 (of 5 total)
  • #181914
    no pathogenic variant detected

    Hi, I’ve received a letter that states “no pathogenic variant detected” has any one ever heard of this. Totally confused. I am waiting for an appointment up at Newcastle hopefully they will be able to explain,
    Thanks for any help offered.
    Mark.

    Mark
    Participant
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    Joined: 13/10/2019
    #181915
    Reply To: no pathogenic variant detected

    Hello Mark. It would be useful to have some more context to the letter so we could understand it more. Have you have DNA testing or some other form of testing? It does suggest on what you have shown us that, in doctor speak, they have not found anything.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #181916
    Reply To: no pathogenic variant detected

    Hi,
    Sorry the message was a bit vague.
    I had a biopsy done six years ago & was told it was limb girdle muscular dystrophy, although they couldn’t pinpoint it down to a number. I did have another blood test done in August & was just wondering if it was anything to do with that. As I said in my other post I am waiting for an appointment up at Newcastle so they can go over my review. I hope this helps you to understand a little more,
    Thanks Mark.

    Mark
    Participant
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    Joined: 13/10/2019
    #181917
    Reply To: no pathogenic variant detected

    i think this is the phrase they use when they know you have an MD and its close to a certain one by as of yet cannot confirm the exact gene fault. which part of the DNA code is missing or faulty. I had a letter like this saying the error in code was peculiar to me as no other family member who came before me has MD. it wasn’t till more modern testing and database usage that they could pin point mine to a SPEN1 fault.

    in “no pathogenic variant detected” i think this means you weren’t born with the genetic condition passed by way of your parents but a mutation that spontaneously happened when the cells divided. Or it could mean what they can see just isnt on the list yet of the path labs MD directory of conditions.

    """""""What doesn't kill you makes you stronger""""""

    Cat (Mod) Cat (Mod)
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    Posts: 1,002
    Joined: 20/09/2010
    #181918
    Reply To: no pathogenic variant detected

    Thanks for your answer, really appreciated, hopefully know more when I have been to Newcastle,
    Mark.

    Mark
    Participant
    Posts: 0
    Joined: 13/10/2019
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