Copy number variations and UPD detection
GeneDx arrays now detect copy number variations and UPD.
GenomeDx: Whole – genome array contains 118,000 oligonucleotide probes for detection of CNVs anywhere in the unique sequence of the genome. The detected CNVs can be as small as 500 bp to 15 kb in >220 targeted loci (e.g., subtelomeric or microdeletion syndrome regions or single genes) and from 15 kb to the length of an entire chromosome outside of targeted regions. Approximately 75 genes associated with neurodevelopmental disorders are targeted at the exon level to detect intragenic copy number mutations. In addition, this array contains 66,000 SNP probes throughout the genome and can detect stretches of homozygosity extending 10 Mb or longer.