Testing & Diagnosis for Autism Spectrum Disorder in Children

Currently, there is no definitive laboratory test for autism spectrum disorder (ASD), though active research is looking for “biomarkers” including genetic tests and brain imaging tests, differences on electroencephalograms (EEGs) and brain imaging tests. (Read more about the Autism Research Program, which is discovering possible biomarkers in babies as young as 6 months.)

For now, though, ASD is diagnosed based on a child’s symptoms and behavior (click the In Depth tab to learn more about ASD symptoms). Usually, the primary care pediatrician will suggest an evaluation by a specialist.


What diagnostic tests are used in autism?


At the Autism Spectrum Center at Boston Children’s, ASD assessments include:

  • a medical and neurological examination
  • a review of your child’s cognitive abilities
  • assessment of your child’s speech and language abilities
  • observation of your child’s behavior
  • an in-depth conversation with you and your family about your child’s behavior and development
  • questions about your child’s family history

Making an ASD diagnosis is just the beginning. Our clinicians will then perform in-depth evaluations to understand your child’s unique strengths and challenges. This evaluation is crucial for defining what kinds of educational programs and behavioral therapies would be most beneficial.


We may involve a number of specialists, such as child neurologists, developmental behavioral pediatricians, speech-language pathologists, child psychologists and psychiatrists, nurse practitioners, educational specialists and occupational therapists. Questions you may be asked include:

  • What kind of language skills does your child have?
  • At what age did his symptoms start?
  • Has he experienced a regression in skills?
  • Does he have any related cognitive or learning problems?
  • Does he have any challenging behaviors?
  • Is he able to pay attention for extended periods?

If appropriate, we may recommend testing to look for related medical concerns based on your child’s history, physical examination findings and results of cognitive and behavioral testing. For instance, children with ASD often have sleep difficulties, and some develop seizures or epilepsy. Our staff can help make this testing as comfortable as possible for your child—read more about our work to make blood draws easier for children with autism.


Additional tests may include:

  • hearing and vision screening to see whether your child has a problem that might be contributing to his symptoms
  • blood lead testing
  • Wood’s lamp exam, a special skin test to screen for tuberous sclerosis
  • testing for metabolic disorders
  • neuroimaging (such as MRI)
  • electroencephalography (EEG)
  • nutritional evaluation for children who eat very limited foods

Genetic testing


At Boston Children’s Hospital, we recommend that all children who have been diagnosed with ASD get genetic testing to screen for specific DNA changes that have been linked to ASD and could cause other medical issues. For some families, information from genetic testing can also be important for family planning.


Genetic testing for ASD at Boston Children’s currently includes a chromosomal microarray (CMA) test and testing for fragile X syndrome (in boys). Other genetic testing may be appropriate for children who have particular symptoms. As new genes are found to be important in ASD, some may be added to routine testing.


Contact Us

Boston Children's Hospital
Autism Spectrum Center
Call Center:  617-355-7493
Fax: 617-730-4823

Our coordinator will make the first available appointment based on an intake process that considers your child’s specific needs. For example, children who also have seizures may be directed to a neurologist within the Center, while children with speech, language and communication difficulties may be referred to our Autism Language Program, part of the Center for Communication Enhancement.

Appointments are available in Boston and at many Boston Children’s satellite locations to provide you and your child with care closer to home. The Call Center can help direct you.