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100Re: New member - is genetic testing useful?

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  • rocketwatts2003 <rocketwatts2003@yahoo.c
    Feb 18, 2003
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      A formal diagnosis has been a blessing for us. It helps us procure
      services, allows us to get access to specific info and support
      groups, has gotten us publicity that has helped pay for thereapy, and
      has given us a mental handhold. I recommend getting as detailed a
      genetic dx as possible. You never know: someday specific thereapies
      might be available, and I imagine already having the dx could save
      valuable time.

      --- In familiesofangelmansyndrome@yahoogroups.com, "Dave Adams"
      <adamsdp@c...> wrote:
      > I am a new member with an autistic son. A local geneticist has
      > recommending to parents with autistic kids that they be tested for
      > mecp2 (Rett syndrome), 22q11.2, FISH studies of chromosone tips and
      > mpcr studies of 15q (Angelman's syndrome). I have heard that he
      > recommends these tests because the listed genetics defects have
      > found in some autistic kids. We have an appointment soon and I am
      > trying to prepare beforehand.
      > I have searched the archives of autism lists at yahoogroups and
      > what I could find, some of the gene defects listed above are not
      > specific to any one disorder. Also, what the genes above are
      > responsible for in the body is not known. I was wondering if the
      > above testing will provide useful information in our case? Does
      > knowing a person has one of the genetic defects above give
      > to therapies or anything else useful? Thanks.
      > Dave
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