Prof. Dr. Vladimir Trajkovski

Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation

G. Bradley Schaefer, Lois Starr, Dianne Pickering, Gwenn Skar, Kristi DeHaai, and Warren G. Sanger

Journal of Child Neurology, 0883073810370479, first published on August 20, 2010


Abstract

The development and refinement of array comparative genomic hybridization has led to expanded applications as a diagnostic tool. Recent reports suggest a high diagnostic yield for array comparative genomic hybridization in autism spectrum disorders. The objective of this study was to determine the diagnostic yield in array comparative genomic hybridization for autism at the University of Nebraska Medical Center. The authors report the diagnostic yield of array comparative genomic hybridization in 89 samples with a primary indication of autism. Clinical information was reviewed for 89 identified cases. Twenty-one cases were excluded because of ambiguous information regarding the diagnosis, a diagnosis other than autism, or abnormal karyotype. Of 68 cases referred for array comparative genomic hybridization testing with a primary indication of autism, 14 (21%) had abnormal findings. This study supports array comparative genomic hybridization in the etiologic evaluation of autism and elevation of array to a first tier diagnostic test.