%0 Journal Article %T Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice %A Renate Marquis-Nicholson %A Debra Prosser %A Jennifer M. Love %A Donald R. Love %J Microarrays %D 2013 %I MDPI AG %R 10.3390/microarrays2020051 %X The role of gene deletion and duplication in the aetiology of disease has become increasingly evident over the last decade. In addition to the classical deletion/duplication disorders diagnosed using molecular techniques, such as Duchenne Muscular Dystrophy and Charcot-Marie-Tooth Neuropathy Type 1A, the significance of partial or whole gene deletions in the pathogenesis of a large number single-gene disorders is becoming more apparent. A variety of dosage analysis methods are available to the diagnostic laboratory but the widespread application of many of these techniques is limited by the expense of the kits/reagents and restrictive targeting to a particular gene or portion of a gene. These limitations are particularly important in the context of a small diagnostic laboratory with modest sample throughput. We have developed a gene-targeted, custom-designed comparative genomic hybridisation (CGH) array that allows twelve clinical samples to be interrogated simultaneously for exonic deletions/duplications within any gene (or panel of genes) on the array. We report here on the use of the array in the analysis of a series of clinical samples processed by our laboratory over a twelve-month period. The array has proven itself to be robust, flexible and highly suited to the diagnostic environment. %K array comparative genomic hybridisation (aCGH) %K dosage analysis %K targeted microarray %K molecular diagnosis %K maturity-onset diabetes of the young (MODY) %K familial phaeochromocytoma/paraganglioma syndrome %K Cowden syndrome %U http://www.mdpi.com/2076-3905/2/2/51