Application of array-based comparative genomic hybridization to clinical diagnostics

Bassem A Bejjani; Lisa G Shaffer

doi:10.2353/jmoldx.2006.060029

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Application of array-based comparative genomic hybridization to clinical diagnostics

Journal article

Open access

Peer reviewed

Application of array-based comparative genomic hybridization to clinical diagnostics

Bassem A Bejjani and Lisa G Shaffer

The Journal of molecular diagnostics : JMD, Vol.8(5), pp.528-533

11/2006

DOI: https://doi.org/10.2353/jmoldx.2006.060029

Handle:

https://hdl.handle.net/2376/112616

PMCID: PMC1876176

PMID: 17065418

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Abstract

Chromosomes, Human, X

Nucleic Acid Hybridization - methods

Oligonucleotide Array Sequence Analysis - methods

Humans

Chromosome Aberrations

Chromosome Disorders - diagnosis

Gene Expression Profiling

Genome, Human

Chromosome Disorders - genetics

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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Title: Application of array-based comparative genomic hybridization to clinical diagnostics
Creators: Bassem A Bejjani - Signature Genomic Laboratories, LLC, 44 W. 6th Ave., Suite 202, Spokane, WA 99204, USA. bejjani@signaturegenomics.com
Lisa G Shaffer
Publication Details: The Journal of molecular diagnostics : JMD, Vol.8(5), pp.528-533
Academic Unit: Center for Reproductive Biology; Medical Education and Clinical Science, Department of
Publisher: United States
Identifiers: 99900547453001842
Language: English
Resource Type: Journal article