CombiMatrix Corporation announced today that it has launched an updated version of its ATScan(tm) test for pre-disposition screening for autism, through its wholly owned subsidiary CombiMatrix Molecular Diagnostics (CMDX). The ATScan test has been updated to encompass recent discoveries published in the journal, Science, which confirm the role of several new genomic imbalances in the etiology of Autism Spectrum Disorder (ASD) (Morrow et al., Science, 11 July 2008, Vol 321).
Together with these most recent discoveries, a mounting collection of independent peer-reviewed studies have revealed a substantial causative role for genomic imbalances or genome copy number variations (CNVs) in autism (Christian et al., 2007, Human Molecular Genetics; Daly et al., 2008, New England Journal of Medicine). The detection of CNVs comprises the very basis of the pioneering ATScan test and is developed on CMDX's rigorously clinically validated array CGH platform and is available upon physician request at CMDX's California licensed and CLIA certified headquarters in Irvine, CA. The ATScan test is designed to detect all of the known genomic copy-number variations (CNVs), including these most recent discoveries associated with ASD.
In the recent Science publication (Morrow et al.), researchers studied the occurrence and recurrence of ASD in families with a high incidence of intermarriage. The data presented in this study elucidate and confirm the role of several genomic imbalances in ASD, and also highlight the possible co-existence of ASD with other developmental disorders such as Angelman syndrome. The latter finding validates the approach and design of the ATScan test, in which over 125 developmental disorders, such as Angelman syndrome and others, are simultaneously tested for alongside all known ASD-related CNVs. With an occurrence as high as 1 in 150 children and a likelihood of recurrence of greater than 15 percent in families with an already affected child, the clinical impact of ASD is likely greater than any other single developmental disorder, including disorders such as Down syndrome
