The ARISk® Autism Risk Assessment Test is a multi-SNP (Single Nucleotide Polymorphism) genetic test which identifies the risk of autism spectrum disorders in children who have older siblings diagnosed with an ASD.
Until now, genetic testing for ASD has primarily been limited to the identification of a number of specific copy number variants (CNVs). Chromosome microarray (CMA) tests detect the presence of rare CNVs at the chromosome level; but, autism-associated CNVs are only found in approximately 10% percent of children with ASD. Recently, a number of common genetic variants or SNPs have been shown to be related to the risk of ASD. While individual SNPs do not cause ASD, IntegraGen’s rigorous studies have shown that the presence of a combination of autism-associated SNPs can predict with a high degree of certainty whether that child will develop ASD.
The SNPs included in the ARISk Test were chosen based on gene discovery research conducted by IntegraGen and a review of the literature. Based on this research, 65 specific genetic markers, or SNPs, have been included in the test. These SNPs have been shown to be associated with autism and to assist in determining an individual’s risk for having an ASD diagnosis. Of these 65 SNPs, 8 are associated with ASD in both males and females, 29 in males only and 28 in females only.
Click here to to see information on the genes associated with the SNPs included in the ARISk Test.
The ARISk Test was developed and validated in two separate cohorts of almost 2,000 individuals with ASD. The Autism Speaks Autism Genetic Resource Exchange (AGRE) data base provided 545 families, including 964 siblings with ASD and 317 unaffected siblings; and the results were replicated in an independent data base including 627 families with 1,000 affected siblings and 288 unaffected siblings.
Click here to learn more about the ARISk Test or to request a DNA collection kit.