GeneDx offers chromosomal microarrays (CMA) for detection of pathogenic copy number changes for postnatal and prenatal samples. The GenomeDx whole-genome CMA contains 2.67 million probes placed throughout the genome. There are 1.9 million non-polymorphic probes for detection of copy number variants (CNVs) and 750,000 SNP probes for detection of regions of homozygosity (ROH) including uniparental disomy (UPD) and identity by descent (parental consanguinity) on all autosomes. In addition, for prenatal testing there is an option for a targeted microarray that focuses on detection of CNVs in approximately 150 cytogenetically relevant regions, including common or novel microdeletion and microduplication syndromes. Deletions >1 Mb and duplications >2 Mb in the remainder of the genome are also assessed. In addition, SNP probes covering only chromosomes known to contain imprinted regions (specifically, chromosomes 6, 7, 11, 14, 15, and 20) can provide information regarding ROH and UPD on those chromosomes.
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|Chromosomal Microarray (GenomeDx®)|
|Prenatal Whole Genome Chromosomal Microarray|
FISH Follow-Up analysis is available for specific cytogenetic region(s) as a follow-up to CNV reported by GeneDx.
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|FISH Follow Up Analysis||Evaluation of a specific cytogenetic region(s) as a follow-up to chromosomal microarray analysis performed by GeneDx||Test Info Sheet|