On The Spot e-News

Volume 5, Issue 9 | November 2010

In this issue:

Signature Genomics performs genotype-first analysis of chromosome abnormalities associated with autism

Signature Genomics has demonstrated that chromosome abnormalities associated with autism spectrum disorders (ASD) may play a role in a broad spectrum of neurodevelopmental deficits.

Recent studies have identified numerous chromosome abnormalities in individuals with ASD; consequently, microarray analysis has been recommended as a first-tier diagnostic test (request reprint) for patients with ASD. In their study, published in Genetics in Medicine (request reprint), geneticists from Signature Genomics examined the yield of abnormal microarray findings in individuals referred to their diagnostic laboratory for testing for an ASD. Of 1,461 individuals with an ASD as an indication for study, 180 had a likely clinically significant chromosome abnormality. After excluding chromosome abnormalities on the X and Y chromosomes and those well associated with ASD, the researchers identified 41 distinct autosomal regions in which to investigate ASD features in cases with overlapping abnormalities. The geneticists then examined the presence of autistic features among 151 additional individuals who were referred for microarray testing for indications other than ASD but had chromosome abnormalities overlapping those found in cases referred for ASD. A minority of individuals with overlapping abnormalities had autistic features, and many of the chromosome abnormalities identified were inherited from parents.

"In contrast to many recent studies of susceptibility loci for ASD, our study employed a genotype-first approach, wherein we characterized these genomic regions in patients referred to a diagnostic laboratory with a spectrum of intellectual disabilities," said Dr. Lisa G. Shaffer, Ph.D., President of Signature Genomics and co-author of the study. "The broad phenotypic spectrum found in individuals with these chromosome abnormalities suggests that these regions are associated with general impaired neurodevelopment which may include features such as autism."

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Signature Genomics introducing microarray technology to the
oncology market at ASH

Roger Schultz, PhD, FACMG, Laboratory Director at Signature Genomics will present the following at the American Society of Hematology Annual Meeting in Orlando, Florida:

"Targeted Microarray Analyses Augment the Clinical Cytogenetic Diagnosis
of Acute Lymphoblastic Leukemia (ALL)"

Meeting attendees are invited to attend the poster session Sunday, December 5, from 6:00–8:00PM in the Orange County Convention Center, Hall A3/A4. Poster II-570. Attendees are also invited to visit Signature Genomics at booth #1079 to learn more abut the role of microarray testing in oncology.

This service is not yet available for commercial clinical use.

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