Diagnostic Array Comparative Genomic Hybridization: Is It Ready for Prime Time?

摘要: In this issue of The Journal Molecular Diagnostics, we feature two articles that offer different perspectives on an emerging field diagnostic technology. Comparative genomic hybridization (CGH) allows a simultaneous assessment copy number across the whole genome. It involves competitive reference and sample interest to immobilized target sequence. Imbalances caused by gene deletion or amplification will lead fluorescently detectable signals array. This information in turn can be used map regions abnormality at level distinction surpasses conventional karyotyping. Although metaphase chromosomes were initial targets array CGH,1 recent advances technologies use oligonucleotides, single-nucleotide polymorphisms, cDNAs, bacterial artificial chromosomes, potential for higher resolution analysis. Thus far, CGH has been extensively research but is relative newcomer arena. follow, Bejjani Shaffer2 Veltman de Vries3 present very visions how technology may setting. Shaffer have chosen take targeted approach, whereas Vries prefer whole-genome coverage. remains seen which these approaches become more widely adopted clinical laboratory. A factors are likely influence choice individual centers, including cost incremental value gained broader Complicating such as polymorphisms normal individuals only described recently.4,5 Progress our understanding wide degree variation between also play role evolution CGH. Development expression analysis preceded terms uptake. Here, similar discussions occur regarding utility practicality characterization smaller panels significantly altered genes. Furthermore, genes identified having prognostic predictive incorporated into even polymerase chain-reaction immunohistochemical tests.6 We exciting stage development CGH. Increasing large-scale studies using ultimately demonstrate whether one broad versus analysis, superior discussion continue laboratories evaluate application. However, outset thing seems clear: far-reaching implications community.