The Autism Genetics Program

All families enrolled through the Assessment Program will be offered a basic genetic evaluation to relate genetic results to other research results.

Our assessment clinicians work directly with our geneticians to carry out basic genetic analyses on all consenting families. We review medical records and perform chromosomal analyses, including copy number variants, by array comparative genomic hybridization, as well as possibly methylation analyses to identify chromosome 15q abnormalities. This screen identifies etiological diagnosis in more than 20% of the families, which has very important ramifications for the families, furthers the goals of identifying new genes in autism, and helps identify etiological heterogeneity in other patient-based research endeavors.