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Autism Consortium study in Pediatrics shows CMA finds more genetic abnormalities than current tests
Date:3/14/2010

uplications in 154/848 (18.2%) patients and 59/848 (7.0%) were clearly abnormal.
  • As a result, chromosomal microarray was better than a karyotype for all but a small number of patients with balanced rearrangements, and those were not necessarily a cause of ASD.

    "This is the largest study of clinical genetic testing for patients with autism spectrum disorders, and the results clearly show that chromosomal microarray analysis detects genetic abnormalities leading to ASD more often than a standard karyotype and fragile X testing," said David Miller, MD, PhD, assistant director of the DNA Diagnostic Laboratory at Children's. "Chromosomal microarray was much better than a karyotype, but most clinical guidelines still recommend a karyotype and consider the microarray a second tier test." Because of the dramatic increase in variations identified using CMA, the Autism Consortium recommends that CMA should be included in the first tier of diagnostic testing for children with ASD symptoms who have no clear genetic cause.

    Genetic Testing Helps Families with Expectations, Securing Services

    "This study demonstrates the importance of genetic testing for families and clinicians," says Laurie Demmer, MD, Chief, Division of Genetics and Metabolism at the Floating Hospital for Children at Tufts Medical Center. "As we collect more data we will be able to determine the genetic causes of autism. More immediately though, these test results allow clinicians to confirm a genetic component for some families with children on the autism spectrum and even more importantly, gives families an end to the odyssey of trying to find a diagnosis for their child."

    There are many benefits for families to receive genetic testing:

    • Genetic test results can confirm a genetic component to a child's ASD and allow families to more quickly access services.
    • Using the test results clinicians can employ the experiences of other children
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    Contact: Kathryn Morris
    kathryn@proncall.com
    845-635-9828
    Autism Consortium
    Source:Eurekalert

    Page: 1 2 3 4

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