SNP-based chromosomal microarrays test detects large copy number changes across the whole genome and is generally recommended as a first-tier test for children with unexplained:
Our SNP arrays platform consists of 2.67 million markers, including 750,000 SNP probes and 1.9 million non-polymorphic probes. This high probe density ensures that all relevant disease genes have 100% coverage, with an average of 1 probe every 880 bases within all genes, and an average of 1 prove every 1,148 bases across the entire genome. Therefore, small deletions, not detectable by other low-resolution platforms, can be easily identified using our system.
In addition to our comprehensive chromosomal microarray analysis we offer targeted testing for a number of microdeletion and microduplication syndromes.