Genetic testing identifies an etiological cause of autism in more than 20 percent of cases, which has very important ramifications for the families, furthers the identification of new autism genes, and helps identify etiological heterogeneity in other patient-based research endeavors. By identifying the cause of autism in an individual, families may be better able to obtain the proper interventions and treatments. This also provides opportunities for genetic counseling, and furthers the goal of identifying new genes in autism and specific treatment targets for future patient-based research endeavors.

All families enrolled in research studies at the Seaver Autism Center for Research and Treatment can choose to avail themselves to a genetic evaluation to relate genetic results to other clinical research results. Our assessment clinicians work directly with clinical and molecular geneticists at Mount Sinai to conduct genetic analyses on all consenting families with the goal of identifying the etiological diagnosis. The clinical genetics team of the Seaver Autism Center carries out these genetic analyses, reviews medical records and performs chromosomal analyses, including copy number variants, by array comparative genomic hybridization, as well as possibly methylation analyses to identify chromosome 15q abnormalities.

Genetic testing identifies an etiological cause of autism in more than 20 percent of cases, which has very important ramifications for the families, furthers the identification of new autism genes, and helps identify etiological heterogeneity in other patient-based research endeavors. By identifying the cause of autism in an individual, families may be better able to obtain the proper interventions and treatments. This also provides opportunities for genetic counseling, and furthers the goal of identifying new genes in autism and specific treatment targets for future patient-based research endeavors.

We have partnered with the Department of Genetics and Genomic Sciences and the Charles Bronfman Institute for Personalized Medicine to translate the research findings from the Seaver Autism Center and from other laboratories around the world into state-of-the-art genetic tests to supplement behavioral assessments used in autism and related conditions.

In 2015, we have expanded our efforts in genetic testing so all families now receive both chromosomal microarray testing in addition to whole exome sequencing.