Autism Spectrum Disorders

To better serve the growing needs of clinicians and patients, Ambry Genetics offers a range of diagnostic testing options for Autism Spectrum Disorders (ASD). 

Autism Spectrum Disorders (ASD) are a group of pervasive developmental conditions characterized by impairment of reciprocal social interactions, restricted learning abilities and stereotypical behavior.

Research highlights heterogeneous cause for ASD, proposing both a genetic and an environmental influence.  Providing this multifactorial inheritance, the diagnostic process continues to present a challenge for both physicians and families. 

Ambry Genetics is leading the way in molecular diagnostic laboratory sciences to diagnose ASD with innovation, ingenuity and experience. We provide the most comprehensive ASD testing, including the Clinical Diagnostic ExomeTM (CDE).

ASD Diagnostic Strategy


*Karyotype can be ordered separately
**Typical / Atypical Rett Syndrome related genes.
**PTEN sequencing and del/dup analysis.

For more information on the role that exome sequencing plays in determining the cause of autism, please read the following white papers: