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The page below is a sample from the LabCE course Autism Spectrum Disorders: Genetic Testing. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Professional Society Guidelines: CMA Testing for ASD

Several professional societies, including the American College of Medical Genetics (ACMG), the American Academy of Neurology (AAN), the American Academy of Pediatrics (AAP), and the Child Neurology Society (CNS), and others have published recommended practice guidelines that support the use of CMA in the initial postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability (DD/ID), or ASD. Several of these guidelines consider CMA testing as reasonable and medically necessary for diagnosing a genetic abnormality in children with DD/ID or ASD according to certain diagnostic and statistical criteria.
In 2015, the AAN published guidelines for CMA for ID. The guidelines note that the criteria do not represent a binding standard of care and that the criteria are proposed as clinical contexts that readily support the use of microarray testing. The guidelines indicate that CMA is considered reasonable and medically necessary for diagnosing a genetic abnormality in children with DD/ID or ASD based on the following criteria:
  • If warranted by the clinical situation and if biochemical testing for metabolic diseases has been performed and is negative;
  • If targeted genetic testing (eg, FMR1 gene analysis for Fragile X), if or when indicated by the clinical and family history, is negative;
  • If the results for the CMA testing have the potential to impact the clinical management of the patient;
  • If face-to-face genetic counseling with an appropriately trained and experienced healthcare professional has been provided to the patient (or legal guardian(s) if a minor child) and if patient or legal guardians have given their consent for testing.