A copy number + single nucleotide polymorphism (SNP) chromosomal microarray test is now available from Mayo Medical Laboratories. Below is information to help clients gain a better understanding of this new test:
What are the advantages of a CMA copy number + SNP test?
This CMA test utilizes >1.9 million copy number probes and approximately 750,000 SNP probes for the detection of copy number changes and regions of excessive homozygosity.
Identification of regions of excessive homozygosity on a single chromosome could suggest uniparental disomy (UPD), which may warrant further clinical investigation when observed on chromosomes with known imprinting disorders associated with UPD. In addition, the detection of excessive homozygosity on multiple chromosomes may suggest consanguinity and therefore could be useful in determining candidate genes for further testing for autosomal recessive disorders.
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