GeneDx introduces AutismDx: A Comprehensive Tiered Testing Approach (Reflex Testing) for Autism Spectrum Disorders (ASD) based on clinical symptoms

The diagnostic workup of ASD patients is challenging and complex. In February of 2008, the American College of Medical Genetics endorsed a practical, step-wise approach to diagnosing the genetic causes of autism and related disorders. Based on these recommendations, GeneDx has developed AutismDx, a comprehensive tiered genetic testing approach tailored to the clinical characteristics of a patient with autism or ASD.

AutismDx combines (1) genome-wide microarray analysis, (2) gene sequencing, and (3) deletion/duplication testing to identify the most common genetic causes of ASD in patients in whom a diagnosis of Fragile X has already been excluded. The following components are included:

GenomeDx microarray v.3: Custom designed, high-resolution, genome-wide aCGH analysis with 105,000 oligonucleotide probes. Very high probe density in ~30 chromosomal regions associated with autism susceptibility (on average 1 probe every 5-10 kb) and excellent resolution across the remainder of the genome (on average 1 probe every 35kb), including all loci for >140 microdeletion/duplication syndromes.
PTEN: Bi-directional sequence analysis of the coding exons 1-9 and the core promoter region; Deletion/duplication testing
MECP2: Bi-directional sequence analysis of the 4 exons of the gene; Deletion/duplication testing
CDKL5: Bi-directional sequence analysis of the entire coding region

Based on a patient’s clinical presentation, AutismDx includes 3 different tiered testing options to ensure the highest possible diagnostic yield and most cost-effective testing strategy:

Panel 1: for ASD patients with macrocephaly

Panel 2: for ASD patients with normal or small head size

Panel 3: “á la carte” gene testing for patients with syndromic autism or specific suspected genetic syndrome(s)