Review Article
Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics

https://doi.org/10.2353/jmoldx.2006.060029Get rights and content

Microarray-based comparative genomic hybridization (array CGH) is a revolutionary platform that was recently adopted in the clinical laboratory. This technology was first developed as a research tool for the investigation of genomic alterations in cancer. It allows for a high-resolution evaluation of DNA copy number alterations associated with chromosome abnormalities. Array CGH is based on the use of differentially labeled test and reference genomic DNA samples that are simultaneously hybridized to DNA targets arrayed on a glass slide or other solid platform. In this review, we examine the technology and its transformation from a research tool into a maturing diagnostic instrument. We also evaluate the various approaches that have shaped the current platforms that are used for clinical applications. Finally, we discuss the advantages and shortcomings of “whole-genome” arrays and compare their diagnostic use to “targeted” arrays. Depending on their design, microarrays provide distinct advantages over conventional cytogenetic analysis because they have the potential to detect the majority of microscopic and submicroscopic chromosomal abnormalities. This new platform is poised to revolutionize modern cytogenetic diagnostics and to provide clinicians with a powerful tool to use in their increasingly sophisticated diagnostic capabilities.

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This Review Article appears in conjunction with the Commentary by Veltman et al, J Mol Diagn 2006, 8:534–537, published in this issue. In these articles, the JMD explores array comparative genomic hybridization (CGH) and offers two perspectives on the question of testing using whole-genome arrays or targeted arrays.

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