Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represents a robust technical platform for both medical genetics research and clinical services. Next generation sequencing technologies are now being widely used for genome or exome-wide detection of sequence variants. While whole genome and exome sequencing can produce information about large genomic imbalances, there is a sensitivity gap for detecting CNVs at the level at which they will be most useful, namely, at the level of a single exon. Custom microarrays designed to cover specific regions of interest on an exome, or even the whole exome, with high-density copy number probes are able to largely close this gap. We custom-designed and validated a microarray which looks in depth at over 600 clinically-relevant genes in pediatric neurology. We demonstrated that the array can detect copy number variants below a 1 kilobase level and that this level of resolution is necessary for maximal utility and impact.
"For Research Use Only. Not for use in diagnostic procedures."