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CNV and array tests

Copy number variations (CNVs) can be a key consideration when ordering genetic testing for your patients.

We offer a range of testing options for CNV detection, using various methodologies such as array comparative genomic hybridization (aCGH) and chromosomal microarray (CMA), which are detailed on this page.

Additionally, our PGxome® tests and panels built with our exome platform, including custom panels, include CNV analysis through next-generation sequencing (NGS) at no additional cost. We encourage you to explore our available panels for more information.


Array Comparative Genomic Hybridization (aCGH)

Test code #600

Array comparative genomic hybridization (aCGH) enables the detection of CNVs of single and multiple exons within a given gene. This test analyzes only the specific gene(s) of interest for each patient.


Whole Genome Chromosomal Microarray (CMA-ISCA)

Test code #2000

PreventionGenetics' CMA-ISCA array is a high-density oligonucleotide aCGH array that combines both copy number analyses and single nucleotide polymorphism (SNP)-based allelic discrimination. The presence of SNP probes allows for the detection of relative changes in allelic distribution and also for the detection of copy neutral regions of homozygosity. The inclusion of SNP probes along with CNV probes can improve the diagnostic yield of a CMA test.


Rapid CMA via aCGH and SNP Test

Test code #12684

Turnaround time is 2 weeks on average for this rapid test.* The custom microarray used for Rapid Chromosomal Microarray is a high-density oligonucleotide aCGH array that combines both copy number analyses and SNP-based allelic discrimination. The presence of SNP probes allows for the detection of relative changes in allelic distribution and also for the detection of copy neutral regions of homozygosity. The inclusion of SNP probes along with CNV probes improves the diagnostic yield of a CMA test.


Rapid Prenatal CMA via aCGH and SNP Test

Test code #3780

Turnaround time is 1 week on average for this rapid prenatal test.* The custom microarray used for Rapid Chromosomal Microarray is a high-density oligonucleotide aCGH array that combines both copy number analyses and SNP-based allelic discrimination. The presence of SNP probes allows for the detection of relative changes in allelic distribution and also for the detection of copy neutral regions of homozygosity. The inclusion of SNP probes along with CNV probes improves the diagnostic yield of a CMA test.

Experienced support at every step

Our team of experts can help you explore testing options, place an order, ship a sample, and understand results.