Abstract
Array-based comparative genomic hybridization (array CGH) genome scanning is a powerful method for the global detection of gains and losses of genetic material in both congenital and neoplastic disorders. When used as a clinical diagnostic test, array CGH combines the whole genome perspective of traditional G-banded cytogenetics with the targeted identification of cryptic chromosomal abnormalities characteristic of fluorescence in situ hybridization (FISH). However, the presence of structural variants in the human genome can complicate analysis of patient samples, and array CGH does not provide morphologic information about chromosome structure, balanced translocations, or the actual chromosomal location of segmental duplications. Identification of such anomalies has significant diagnostic and prognostic implications for the patient. We therefore propose that array CGH should be used as a guide to the presence of genomic structural rearrangements in germline and tumor genomes that can then be further characterized by FISH or G-banding, depending on the clinical scenario. In this article, we share some of our experiences with diagnostic array CGH and discuss recent progress and challenges involved with the integration of array CGH into clinical laboratory medicine.
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Acknowledgments
The authors wish to thank our colleagues at Combimatrix Molecular Diagnostics for their assistance with this manuscript, especially Dr Mercedes Gorre for providing critical review and Natasha Dzidic and Jaewon Kim for their invaluable contributions to the development of these arrays.
The hematological malignancies research was supported in part by the San Antonio Cancer Institute Cancer Center Support Grant (P30 CA54174) and an American Cancer Society (ACS) Institutional Research Grant.
Drs Gunn and Mohammed have a professional relationship with Combimatrix Molecular Diagnostics, with Dr Gunn serving as Medical Director, and Dr Mohammed serving as Chief Operating Officer.
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Gunn, S.R., Robetorye, R.S. & Mohammed, M.S. Comparative Genomic Hybridization Arrays in Clinical Pathology. Mol Diag Ther 11, 73–77 (2007). https://doi.org/10.1007/BF03256225
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DOI: https://doi.org/10.1007/BF03256225