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Son diagnosis today of 15q13.3 micro duplication

NAS11046

Has anyone else been diagnosed with this? Or have any experience of this? 

I have put a previous post up yesterday about waiting 10 months for our camhs appointment for ASD assesment, got 6 months left to wait, does anyone think that I should phone camhs and let them know of this diagnosis and do you think that they might bring our appoitment forward? X 

Parents

  • I don't have a geneticist.  I think I might be an interesting study for one, but the NHS doesn't do genetic tests unless there is a specific reason to suspect a genetic condition.  I expect they are expensive to run, and unless you have physical problems (which in the NHS only seem to be severe ones not the frequent GI, sensory and sleep problems in ASC) they'd probably refuse.

    Just out of interest, what made the doctor instigate genetic tests for your little boy?

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  • I don't have a geneticist.  I think I might be an interesting study for one, but the NHS doesn't do genetic tests unless there is a specific reason to suspect a genetic condition.  I expect they are expensive to run, and unless you have physical problems (which in the NHS only seem to be severe ones not the frequent GI, sensory and sleep problems in ASC) they'd probably refuse.

    Just out of interest, what made the doctor instigate genetic tests for your little boy?

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