SynapDx Autism Gene Expression Analysis Study (SAGA)

This study will prospectively enroll approximately 660 children, at least 18 months and less than 5 years of age, who have been referred to a pediatric developmental evaluation centers. Enrolled children will have blood drawn for RNA gene expression analysis and undergo a clinical evaluation to determine the presence or absence of a diagnosis of ASD.

The sequential co-primary objectives of this study are:

• To develop an algorithm to classify blood RNA gene expression patterns to maximize agreement between the classification and a clinical assessment of presence or absence of Autism Spectrum Disorders (ASD).
• To prospectively assess the clinical sensitivity and specificity of the blood RNA gene expression classification algorithm (the SDX-002 test) in children referred to a developmental evaluation clinic for a possible developmental disorder.