The American College of Medical Genetics supports the genetic testing of individuals with an autism spectrum disorder (link here:  https://www.nature.com/articles/gim201332).  Unfortunately, ever-changing technology leaves clinicians and families with questions like “what genes should I be looking for?” and “what is the best type of test?”

 

Current scientific knowledge supports the use of WES or whole exome sequencing to detect variants associated with ASD. 

 

The first step for a family should be to talk with their neurologist, pediatrician or developmental pediatrician to obtain a prescription for a genetic test and then work with their insurance company to determine what, if anything, will be covered.  Each plan and company have their own guidelines on this.  Any genetic test should be followed by a meeting with a genetic counselor to discuss the results and identify genes that are known to be associated with autism, as well as gene mutations of unknown significance.

 

Here are a list of resources and commercial companies that also may be helpful:

 

• Project FIND OUT:  right now for infants and toddlers, click here:  https://projectfindout.org

• 23andme.  The $99/month option provides genetic counseling:  https://www.23andme.com

• GeneDx:  https://www.genedx.com/ndd/

• Invitae:  https://www.invitae.com/us/genetic-condition

• SPARK:  https://sparkforautism.org