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Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies


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September 2011

Chromosomal microarray testing is recommended as the first-tier test to detect chromosomal imbalances in persons with developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies. Interpretation of test results is a complex process and detailed clinical information and genetic consultation are helpful for accurate interpretation.


  • Erik Thorland, PhD, Director of the Mayo Clinic Cytogenetics Laboratory at Mayo Clinic in Rochester, Minnesota
  • Karen Wain, MS, Genetic Counselor in the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota

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