%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