Molecular Test Identifies Chromosome Abnormalities in Children

A molecular diagnostic test detects chromosome abnormalities associated with 85 developmental disorders affecting children.

The ClariSure microarray-based comparative genomic hybridization (CGH) test enables physicians to use results obtained from a single blood test to diagnose patients with mental retardation and dozens of other disorders, including Down, cri du chat, DiGeorge, and Williams syndromes.

CGH microarray technologies compare and contrast a specimen's DNA to the DNA of a healthy individual to identify, at a high resolution, extra or missing genetic material in the specimen. These technologies can detect a substantial proportion of additional abnormalities even in patients who have already had extensive cytogenetic and/or fluorescence in-situ hybridization (FISH) testing. CGH microarray technologies are also more efficient, as multiple FISH tests are required to generate the same amount of information produced from one microarray-based test.

Quest Diagnostics (Lyndhurst, NJ, USA) developed the ClariSure test, which is now is commercially available in the United States. "Our ClariSure test is an important advance in diagnostic testing resulting from the Human Genome Project. This project gave us the map of the human genome and knowledge of DNA required to develop and commercialize our assay,” said Charles Strom, M.D., Ph.D., medical director of the genetic testing center of Quest Diagnostics Nichols Institute, the testing laboratory and research and development center of Quest Diagnostics.

"Using today's conventional analytical techniques, physicians may inadvertently miss the genetic cause of a patient's developmental disorder. Our ClariSure test is a powerful tool that physicians can use to produce an accurate diagnosis more quickly,” Dr. Storm continued.

"While CGH microarrays often are used for research purposes, the considerable expertise and development required to commercialize these technologies has limited their use for diagnostic testing,” said Joyce Schwartz, M.D., vice president and chief laboratory officer. "Our ClariSure assay bridges the gap between scientific research and real-world testing, affording physicians with a faster technique for diagnosing patients suspected of having a developmental disorder. With better diagnostic insights, parents can provide their child with appropriate schooling and social support, and understand the likelihood that other offspring may have the same disorder.”


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