If I Take My Child With Autism For Genetic Testing, What Tests Will Be Conducted?

Oct. 23, 2008 -- Question: If I take my child with autism for genetic testing, what tests will be conducted?

Answer: Genetic testing is becoming a more important part of the diagnostic procedures that occur when a child comes in for potential autism diagnosis and workup. Five years ago, we might have only been able to diagnose one in a hundred children who came in with autism with a particular genetic etiology or cause. Now, we can diagnose up to 20 percent of children who come in. This is because of advances in genetic testing and our appreciation that a significant proportion of children with autism have genetic causes.

So, when you come in for genetic testing for autism, you will get fragile-X test and you will have your chromosomes tested at very high resolution using a technique called array CGH, or comparative genomic hybridization, and this allows us to look at very high resolution throughout the chromosomes, to identify a potential chromosomal disorder in a child with autism.