CombiMatrix announced this week it has completed the clinical validation of the first of its ATScan suite of bacterial artificial chromosome arrays based on comparative genomic hybridization for autism in children.
According to CombiMatrix, ATScan, designed to detect known genomic copy-number variations associated with autism spectrum disorder, is now available to physicians and consumers.
“While there is considerable debate as to all of the possible causes of ASD, numerous studies are reporting that structural changes, and in particular copy number variations of specific chromosomal regions, can be involved as predisposition factors,” the company said in a statement.
CombiMatrix developed the test in partnership with researcher Steve Scherer of the Center for Applied Genomics and Hospital for Sick Children in Toronto. Scherer recently published in the American Journal of Human Genetics confirmatory studies identifying the role of the SHANK3 gene on chromosome 22q in ASD susceptibility.
"If children analyzed by the new CombiMatrix array are found to carry specific copy number variations, they would become candidates for careful monitoring and early intervention," CombiMatrix CEO Mansoor Mohammed said in a statement.
One in 150 children born in the US are diagnosed with ADS, according to the Centers for Disease Control and Prevention. Additionally, the American Academy of Pediatrics recommends that children be evaluated for autism at least twice before the age of two, since early intervention may help mollify the severity of symptoms.
"Typically, children are evaluated and diagnosed through somewhat subjective behavioral analyses, and objective methods to determine predisposition do not exist," CombiMatrix said.