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

Boston March 15, 2010 The Autism Consortium, an innovative research, clinical and family collaboration dedicated to catalyzing research and enhancing clinical care for families with autism spectrum disorders (ASDs), announced today that the results of its comparison study of genetic testing methods for autism spectrum disorders is available from the journal Pediatrics through early online release in their eFirst pages today and will appear in the journal's April issue. The study revealed that chromosomal microarray analysis (CMA) had the highest detection rate among clinically available genetic tests for patients with autism spectrum disorders and should be part of the initial diagnostic evaluation of all patients with ASDs unless a genetic diagnosis has already been made.

The study, a collaboration between the Autism Consortium and Children's Hospital Boston, led by Consortium members Bai-Lin Wu, David Miller, Kira Dies, and Yiping Shen, examined 933 families (children and parents) who received clinical genetic testing for a diagnosis of Autism Spectrum Disorder (ASD) between January 2006 and December 2008. The researchers compared the findings from three clinical genetic tests: G-banded karyotype and fragile X testing, the current standard battery of genetic testing, and chromosomal microarray analysis, for which testing guidelines have not yet been established. Chromosomal microarray analysis is similar to a karyotype, but can find much smaller chromosomal deletions and duplications.

The results showed that chromosomal microarray analysis identified more genetic abnormalities associated with autism than the standard testing methods combined:

  • Standard testing method G-banded karyotype testing yielded abnormal results in 19/852 patients (2.23%)
  • Standard testing method Fragile X testing results were abnormal in 4/861 patients (0.46%)
  • In contrast, chromosomal microarray analysis (CMA) identified deletions or d
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Contact: Kathryn Morris
kathryn@proncall.com
845-635-9828
Autism Consortium
Source:Eurekalert

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