Chromosomal Microarray

GeneDx offers a custom-designed postnatal chromosomal microarray (CMA) for detection of pathogenic copy number changes. The whole-genome CMA uses 182,000 probes to evaluate the entire genome for chromosomal aneuploidy and intrachromosomal deletions and duplications. In addition, SNP genotyping probes on all chromosomes allows detection of large blocks of homozygosity, which may represent uniparental disomy. Lastly, this array also contains exon-level probe coverage to detect single-exon deletions or duplications in approximately 65 genes associated with developmental disorders.

*Chromosomal microarray testing is also available for prenatal samples. For more information regarding prenatal cytogenetic testing services at GeneDx, please click here.

Test Available More Information
Chromosomal Microarray (GenomeDx) (CMA)
Whole Genome Array, Products of Conception (POC)