The ARISk® test is designed to help physicians and parents identify children who are at increased risk of ASD to allow for earlier diagnosis and intervention options. The ARISk® test measures a large number of single nucleotide polymorphisms (SNPs), which serve as genetic markers to help determine an individual child’s risk of having ASD. An SNP is a variation in a single base pair in a DNA sequence. The test is offered by IntegraGen, based in France and Cambridge, Massachusetts.
The ARISk® test uses a buccal swab to collect the specimen and tests for 65 genetic SNP markers associated with ASD. The measurement of the 65 markers produces a risk index for the development of ASD. The test assesses the ASD risk by placing the infant into three categories: low, medium, or very high risk of ASD. It is important to note that although no one SNP is predictive of autism, a child carrying several of these common variants has a high risk of developing autism. Similarly, a child carrying very few or no SNPs is at low risk. The new test is also gender-specific. Of the 65 autism-associated SNPs in the screen, eight are associated with ASD in both males and females; 29 in males only; and 28 in females only.
The placing of the infant into a risk category may in turn allow for close monitoring of developmental milestones and, if appropriate, the earliest possible intervention therapies may be employed.
