Chromosomal microarray (CMA) testing and next generation sequencing (NGS) are commercially available through many laboratories and include targeted and whole genome arrays. The following is a list of the primary commercially available genetic tests for ASD, other intellectual disabilities (ID), and developmental disabilities (DD):
- The Affymetrix CytoScan™ Dx test (Santa Clara, CA) has been cleared by the United States (US) Food and Drug Administration (FDA). It is currently the only FDA approved genetic test for ID and DD. The FDA found that the CytoScan™ Dx Assay could analyze a patient’s entire genome and adequately detect chromosome variations in regions of the genome associated with both ID and DD.
- FirstStepDx PLUS® (Lineagen, Salt Lake City, UT) uses Lineagen’s custom-designed microarray platform manufactured by Affymetrix. More details on this test are presented in the next section of this course.
- The ARISk® Autism Panel Test (IntegraGen Inc, Cambridge, Mass) is comprised of a large number of specific genetic markers called single-nucleotide polymorphisms (SNPS) which help to determine an individual child’s risk of having ASD. This test will be presented in more detail in a later section of this course.
- The Autism/ID Xpanded Panel (GeneDx,Gaithersburg, MD) is based on whole exome capture, next generation sequencing (NGS), and targeted analysis of a comprehensive list of approximately 2,300 genes currently associated with ASD and/or ID, and/or DD. This test will also be presented in more detail in a later section of this course.
- Ambry Genetics (Aliso Viejo, CA) offers multiple tests (CMA and NGS) that are designed for ASD and neurodevelopmental disorders.
- Reveal® SNP Microarray-Pediatric (offered by Labcorp, Inc) is designed for individuals with nonsyndromic congenital anomalies, dysmorphic features, developmental delays, intellectual delays, mental retardation, and ASD.
- Courtagen (Woburn, MA) offers three NGS panels which are intended for the assessment of developmental and behavioral phenotypes:
- devSEEK® Triome™: Includes 1,119 genes associated with DD/ID and ASD.
- devSEEK®: Includes 237 genes associated with DD/ID and ASD, with additional testing available for large deletions and duplications.
- devACT® Clinical Management Panel: Includes 250 genes associated with DD/ID and ASD, focusing on genes associated with actionable clinical management changes, with additional testing available for large deletions and duplications.
- Emory Genetics Laboratory offers a NGS ASD panel of genes that target genetic syndromes that include autism or autistic features.
- Greenwood Genetics Center (Greenwood, SC) offers a NGS panel for syndromic autism that includes 83 genes.
