January 18, 2008 — Agilent Technologies says that a breakthrough study establishing a relationship between autism spectrum disorders (ASD) and extra or missing genes on a section of chromosome 16 used Agilent microarrays to detect these microdeletions and microduplications.

The study, “Association between Microdeletion and Microduplication at 16p11.2 and Autism,” published January 9, 2008 in The New England Journal of Medicine online, represents the largest, most complete genome scan for ASDs to date. Completed in October, it used three independent data sources. One analysis was conducted by the Autism Consortium, a collaboration of 14 leading universities and medical centers including Children’s Hospital Boston. Another was completed by deCODE Genetics Inc., in Iceland. The third was performed at Children’s Hospital Boston using clinical samples from its own patients.

Researchers screened samples from 936 children from Children’s Hospital Boston using Agilent comparative genomic hybridization (CGH) microarrays. Microarrays are glass slides containing thousands of DNA “features” that enable scientists to examine large numbers of genes simultaneously. CGH microarrays are designed specifically to detect chromosomal additions and deletions.

The Children’s Hospital team used Agilent’s online design tool, eArray, to develop custom microarrays for the study. “The ability to reliably find extremely small missing or extra pieces of DNA has evolved just within the past six to eight months,” noted co-author Yiping Shen, director of Research and Development at the Children’s Genetic Diagnostic Laboratory.

Using Agilent microarrays, Children’s Hospital researchers found five instances of the deletion among 512 patients referred for developmental delay or suspected ASDs. In addition, the Children’s Hospital team identified four patients with a duplication rather than a deletion.

“Our findings certainly have the potential for use in evaluating children for development delay and autism,” says Bai-Lin Wu, director of the Children’s Hospital Genetic Diagnostic Laboratory, leader of the Children’s team on the study and a senior author of the paper.

Meanwhile another microarray developer, CombiMatrix Corp., announced that as a result of the study, it is adding tests for the chromosome region to its product.