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Genetic Testing....

2lovelyboys2lovelyboys member
in Special Needs
Hello All:  I wanted genetic testing done for my 4 yo.  He is dev. delayed and recently I'm concerned that he is growing slowly.  I have been to neuro, etc and I want to finally do genetic testing.  I have been in touch with Mt. Sanai (sp?) in NYC.  I was told to have the Ped fax over all records and the genetic doc will look it over and see if it warrants an appt.  What?  I never heard of such BS.  I want appt...period!  Am I wrong?  I'm looking elsewhere is the meantime but is this the norm?  He may see records and say, naaa no big deal but I need to fill them in on all his delays, etc.  I think the ped has down what therapy he gets, that's it.  There is no diagnosis or anything. 
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Re: Genetic Testing....

  • Jinsy80Jinsy80 member
    I found it a little difficult to get an appointment, even with a referral. I tried a place in Valhalla, but they never returned my phone calls. I finally got an appointment up in Albany, but that was after my daughter's pediatrician called and a couple of weeks of back and forth calls. It's been a 6 month wait to get in. DD2 has global delays, but we're trying to get a diagnosis.
    Lilypie Second Birthday tickers Lilypie Fifth Birthday tickers
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  • zoeyandsummersmomzoeyandsummersmom member
    We are going to Montefiore to do testing. I called and made an appointment and had my pediatrican back it up. I have also heard good things about Yale.
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  • rsd12rsd12 member
    We could not get an appt with genetics unless we had a referral from the pediatrician. I don't believe it was that long of a wait with the referral too. Actually all of his specialists like... ent, cleft clinic, opthamologist, etc. All require referrals before he can be seen.
    Boy 1 2/06 - Boy 2 12/07 - Boy 3 9/09
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  • realisticdreamsrealisticdreams member

    We did self referral for both girls, granted they could see the majority of her records, geneticist was not one of the doctors who made our pedi make the appt.

     

    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


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