Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray

Test Information

The CytoScan Dx Assay is the FDA-cleared whole genome SNP microarray. The CytoScan Dx Assay has been through a rigorous clinical trial to prove analytical and clinical performance as well as standardize the process and protocol. The CytoScan Dx Assay can only be used for the clinical indications cleared by the FDA listed below. (A separate microarray platform is available for all other clinical indications.) In addition to detection of copy number variations (CNVs), this SNP array also allows for the analysis of loss of heterozygosity (LOH) which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent).

Turnaround Time

26 days

CPT Code(s)





The CytoScan Dx Assay is intended for the detection of CNVs specifically associated with: Developmental delay, Intellectual disability, Congenital anomalies, and Dysmorphic features.

If the patient does not have one of these four features listed above, please the the CytoScan HD under associated tests.


Whole Genome SNP Array including: 2.67 million markers. (Backbone coverage of 1 marker per 1,737 bases)
750,000 SNPs
1.9 million non-polymorphic probes
Gene coverage is 1 marker per 1100 bases for more than 36,000 RefSeq genes
Enriched Gene Coverage
12,000 OMIM genes, 1 marker/659 bases
X chromosome genes, 1 marker/486 bases
Complete ISCA constitutional coverage,1 marker/384 bases
Characterization of LOH and UPD by SNP genotyping

Specimen Requirements

5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is required. The minimal blood needed for reliable DNA isolation is 3 ml. Blood is the only accepted specimen type for this FDA-cleared test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

A separate array assay is available for prenatal testing. See associated tests.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Cytogenetic Testing, Microarray
One Mother's Story

One Mother's Story

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