GeneDx recently updated its menu of arrays to allow for the detection of copy number changes and uniparental disomy.
The firm's Prenatal Targeted Array contains 42,000 oligonucleotide probes placed throughout the genome and enriched in 100 regions associated with common or novel microdeletion and microduplication syndromes. It can also detect aneuploidies and rearrangements involving subtelomeric regions and any intrachromosomal region greater than 1.5 megabases.
In addition, the array contains 18,000 SNP probes covering chromosomes known to contain imprinted genes and can detect uniparental disomy involving these chromosomes. Exon-level probe coverage is added to some genes associated with Mendelian disorders that are detectable prenatally, according to the firm.
Its GenomeDx whole genome array is intended for high-resolution analysis of postnatal cases and the latest version of the array contains 118,000 oligonucleotide probes with gene-centric enrichment for detection of CNVs anywhere in the unique sequence of the genome. Approximately 65 genes associated with neurodevelopmental disorders are also targeted at the exon level to detect intragenic copy number mutations. In addition, the array now contains 66,000 SNP probes throughout the genome and can detect stretches of homozygosity extending five megabases or longer, GeneDx said.
The arrays are based on Agilent Technologies' G3 SurePrint CGH+SNP array platform. Agilent began selling CGH+SNP arrays last year.