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Looks like genome sequencing...

laurdinglaurding member
in Special Needs

We got the results of the dystroglycanopathy (muscular dystrophy)test today and they were....negative?  I had really convinced myself that the test would be positive.  So, it looks like genome sequencing is the next step.

This doesn't mean that DD doesn't have MD, just that she doesn't have the type they tested.  In a way, and I think you ladies may understand, I was disappointed that we didn't have an answer.  And then I felt a little guilty for expecting a positive.  

I know there was a post a few days ago about genetic testing, but has anyone done sequencing and what was your experience? 

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Re: Looks like genome sequencing...

  • greengirl0909greengirl0909 member
    I know nothing about genome sequencing, or muscular dystrophy for that matter, but I wanted to comment on your "disappointed that we didn't have an answer." We have only begun our journey and that is exactly the sentiment I have- even if it's ____, then at least we would know! It's so hard to feel like you are waiting to start making a plan for your kiddo.  Best of luck!
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  • preggersINschool25preggersINschool25 member
    We have been trying to get sequencing done since the end of February. Our insurance rejected the pre authoization stating that it is too experimental and no evidence that it will help him medically or something like that. We are in the appeals process, but it has been a long waiting game. After his blood is drawn I was told results take 4 months. The test is almost 10k without insurance.

    Have you already had a microarray done?


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  • laurdinglaurding member

    I believe we did have that done...they found that DD has a partial deletion of chromosome 10, but we found that I have that, too, so it isn't what is causing everything.

    We were able to find a research group that may be able to complete the testing.  The issue with that is they have no guarantee on time and they are only looking for specific things.  I hope everything works out for you! 

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  • Rose.9.6.03Rose.9.6.03 member
    We are in the process of exome sequencing through a research study.  We looked into exome and genome sequencing through clinical sources and insurance would not cover it.  Exome sequencing is cheaper than genome sequencing and can provide much of the same information. 
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  • Rose.9.6.03Rose.9.6.03 member

    I hit "enter" before I was done.  So far the process has been relatively easy for us.  We had to provide a blood sample and a skin sample (DD's issues are largely dermatological).  Now we just wait.  It should be anywhere from 3-6 months for the sequencing to be complete.  Then we will need to do clinical testing afterward to confirm the diagnosis, which will take another 6-10 weeks.  

     Good luck with finding answers.  We've been with genetics for nearly 4 years without answers, so I understand your frustrations! 

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  • FemNik214FemNik214 member
    We haven't done genome sequencing but we had genetic testing done and we had the deletion on chromosome 22 and extra genetic material on chromo 6. I'm so sorry you guys are still without answers, I know my wait for answers was only 2 months but it felt like an eternity and I can only offer my sympathies and well wishes. Good Luck finding answers.
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