Clinical Genetic Diagnosis

The goal of this project is to study the possible genetic causes of autism spectrum disorders and determine what types of clinical genetic tests should be offered to individuals with an ASD. As part of this research study, clinical genetic tests will be performed and we will collect the test results. Importantly, this screening mechanism will provide families with a comprehensive approach to accurate diagnosis by testing for the most commonly associated genetic conditions with autism spectrum disorders. The cost of the clinical genetic tests will be paid for by the study if insurance will not provide full coverage. A goal of the project is to demonstrate the effectiveness of early and accurate diagnosis and explore long term sources of funding or more complete funding by insurers and health care payers.

The project involves three particular genetic tests for patients with an autism spectrum disorder (ASD): karyotype, fragile X syndrome, and comparative microarray analysis.

This study is currently enrolling families at Boston Medical Center, Children’s Hospital Boston, Massachusetts General Hospital, Cambridge Health Alliance, and The Floating Hospital for Children at Tufts Medical Center.