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Genetic Testing for Autism??

Leesha DLeesha D
in Special Needs
I'm curious if it is possible to have genetic testing done for autism. My friend is thinking about possibly having this done before getting pregnant and I know nothing about the topic or if it would even yield any results. Both her and her DH have family members on the spectrum.

I already asked her if knowing would affect their decision on having kids, but I'm just looking for anyone who has experience with this, if at all image thanks!
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Re: Genetic Testing for Autism??

  • mommyof4boysmommyof4boys member

    Our developmental ped did genetic testing as a means of ruling things out and in doing so, we found my son has something called a 16p11.2 duplication.  This syndrome is associated with autism.  We're going to a genecist in Boston in a few weeks that believes that many people who are on the spectrum are walking around with some genetic mutation and don't know it.

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  • mommyof4boysmommyof4boys member

    No, this wasn't standard karotyping but instead a reflux SNP array.  I can send you the information I have if you want :)

    https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=del16p11_2

    This is one of the sites I have.  There's not much information on the duplication as opposed to the deletion.  There are subtle differences between the two, some physical markers, from what I'm told those with the duplication can have seizure disorders, heart and intentinal issues, some minor physical differences.  Males are more prone to hypostadius than the general population; this is one the reasons we believe Matthew has the same genetic duplication.  Also, the deletion is more "de novo" as opposed to the duplication that is more inherited.

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  • andreas4dogsandreas4dogs

    Genetic testing wouldn't necessarily be helpful ~ particularly if the child isn't even here yet. My son underwent chromosomal testing (recommended by my developmental pediatrician) and everything came up 'normal'

    Yeah, that was a useful result! Genetic tests obviously don't always give us answers, particularly in G's circumstance.

    imageimage
    You will forever be my best friend. I can almost feel our hugs. I will ensure everyone will know (now and in the future) what a genuine, kind, loving person you were...I already miss your laughter and our daily conversations. I love you, Samantha. May 20, 1983- February 20, 2012
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  • earthycrunchymamaearthycrunchymama

    Baylor has Genetic Testing for Patients with Autism but I haven't heard of parent testing...

    Mitochondrial disease (which is genetic) has substantial risk for Autism (7-20% of kids with autism have mitochondrial dysfunction) so  knowing of genetic issues like this would tell you that you're higher risk. Baylor does Mitochondrial/Metabolic Oligonucleotide Array CGH Analysis and other tests as well, but you'd be aimlessly looking unless you have a known mutation. it costs thousands of dollars for these tests. not worth it if you're in a low risk-group. a lot of us with a diagnosis (through muscle biopsy) can't get these tests paid for. Tongue Tied

     

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