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IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
Date:4/4/2012

sorder in comparison to the general population."

The ARISk Test is a multi-SNP (Single Nucleotide Polymorphism), gender-specific, genetic screening test that looks at 65 specific genetic markers, or SNPs, shown to be associated with ASD. Of the 65 SNPS, eight are associated with ASD in males and females, 29 in males only, and 28 in females only. With the latest national prevalence of ASD in boys at 1:54, ASD is greater than four times more likely to occur in males.

Many studies have demonstrated a strong genetic basis for ASD, which often runs in families. The average recurrence risk for siblings of children with ASD reaches 18.7% (25.9% for males and 9.5% for females). Recent studies of fraternal twins indicate that autism is highly inheritable, and studies which identified numerous genetic markers associated with autism demonstrate a complex inheritance pattern.

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 found in approximately ten 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 ARISk Test has been developed and validated on 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. IntegraGen has also initiated
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Contact: Jane E. Rubinstein
jrubinstein@rubenstein.com
212-843-8287
IntegraGen
Source:Eurekalert

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