Array-based Identification of Copy Number Changes in a Diagnostic Setting : Simultaneous gene-focused and low resolution whole human genome analysis

Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Love, Chuan-Ching Lan, Alice M. George, Anthony Thrush, Donald R. Love


Objectives: The aim of this study was to develop and validate a comparative genomic hybridisation (CGH) array that would allow simultaneous targeted analysis of a panel of disease genes and low resolution whole genome analysis. Methods: A bespoke Roche NimbleGen 12x135K CGH array (Roche NimbleGen Inc., Madison, Wisconsin, USA) was designed to interrogate the coding regions of 66 genes of interest, with additional widelyspaced backbone probes providing coverage across the whole genome. We analysed genomic deoxyribonucleic acid (DNA) from 20 patients with a range of previously characterised copy number changes and from 8 patients who had not previously undergone any form of dosage analysis. Results: The custom-designed Roche NimbleGen CGH array was able to detect known copy number changes in all 20 patients. A molecular diagnosis was also made for one of the additional 4 patients with a clinical diagnosis that had not been confirmed by sequence analysis, and carrier testing for familial copy number variants was successfully completed for the remaining four patients. Conclusion: The custom-designed CGH array described here is ideally suited for use in a small diagnostic laboratory. The method is robust, accurate, and cost-effective, and offers an ideal alternative to more conventional targeted assays such as multiplex ligation-dependent probe amplification.


Array comparative genomic hybridization (aCGH); Gene dosage; Copy number variants (CNVs); DNA microarray; Molecular diagnosis.

Full Text:



  • There are currently no refbacks.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

Sultan Qaboos University Medical Journal, College of Medicine and Health Sciences, Sultan Qaboos University, PO Box 35, Postal Code 123, Al-Khod, Muscat, Oman

ISSN (Print edition): 2075-051X ISSN (Internet edition): 2075-0528

Copyright SQUMJ 2019. This journal and its content is licensed under a Creative Commons Attribution No Derivatives 4.0 International license.

Flag Counter