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Genetic and Rare Diseases Information Center (GARD)

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Autism spectrum disorders


* Not a rare disease
Other Names for this Disease
  • ASD
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Tests & Diagnosis

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Is genetic testing available for autism spectrum disorders (ASD)?

Genetic testing can determine the cause of some cases of ASD. Currently, a genetic cause can be identified in 20% to 25% of children with ASD. The cause of ASD in the remaining 75% to 80% remains unknown. Genetic testing can help determine if a person has ASD caused by a chromosome abnormality or a single-gene disorder. Large chromosome abnormalities have been seen in about 5% of those with ASD; smaller deletions or duplications of genetic material has been found in about 10-20%; single gene disorders have been found in about 5% of those with ASD. Despite intensive research, no specific gene has been solely associated with ASD.[1]

GeneTests lists the names of laboratories that are performing genetic testing for ASD. To view the contact information for the clinical laboratories conducting testing, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. 
Last updated: 10/19/2011

  1. Miles JH et al.. Autism Spectrum Disorders. GeneReviews. April 2010; Accessed 10/19/2011.