Thermo Scientific™

CytoScan™ Dx Assay Kit

Catalog number: 902420
Have Questions?
Thermo Scientific™

CytoScan™ Dx Assay Kit

Catalog number: 902420
Have Questions?
Catalog Number
Unit Size
1 kit
Price (USD)
Catalog NumberUnit SizePrice (USD)
9024201 kitRequest A Quote
Product Overview
Citations & References
Additional Information

The Applied Biosystem CytoScan Dx Assay is a US FDA-cleared and EU In Vitro Diagnostic Regulations (IVDR)-compliant advanced microarray diagnostic test for the identification of the underlying genetic cause of developmental delay, intellectual disability, congenital anomalies, or dysmorphic features in children.

Key benefits

  • Advanced diagnostic test for reliable and reproducible results—FDA-cleared and IVDR-compliant postnatal blood test to aid in the diagnosis of developmental delay, intellectual disabilities, congenital anomalies, or dysmorphic features
  • Analyze the entire genome with one test—accurately detect numerous chromosomal variations of different types, sizes, and genomic locations at higher resolution than karyotyping and more comprehensively than conventional FISH
  • Designed for today and the future—the design of the CytoScan Dx Assay, which includes 2.69 million functional markers across the entire genome, ensures that most genes are represented, not only those identified as currently relevant
  • Dual probe content with high-density SNPs—containing both CN and SNP probes, the CytoScan Dx Assay can elucidate allelic imbalances and identify LOH/AOH that can be associated with uniparental disomy or consanguinity, both of which increase the risk of recessive disorders. SNP patterns also provide confirmation of copy number changes.
  • Exceptional performance—high specificity, sensitivity, accuracy, and resolution across the genome
  • Streamlined data analysis—Chromosome Analysis Suite Dx (ChAS Dx) Software has an intuitive graphical interface for streamlined analysis workflows, ISCN array nomenclature, and links to databases* to support data analysis workflows
  • Improved diagnostic yield—due to its higher resolution and whole-genome coverage, the CytoScan Dx Assay improves diagnostic yield by an incremental 12.5% enabling accurate and more effective diagnosis when compared to G-banded karyotype

Chromosomal microarray analysis (CMA) is recommended as a first-line test to aid in the diagnostic evaluation of intellectual disability (ID) by multiple medical societies, including:

  • American Academy of Neurology (AAN)
  • Child Neurology Society (CNS)
  • American College of Medical Genetics (ACMG)
  • European Society of Human Genetics (ESHG)

Medical society guidelines also recommend CMA as a replacement for traditional karyotyping and fluorescence in situ hybridization (FISH) because of its:

  • Greater sensitivity
  • Higher resolution
  • Genome-wide capability
  • Greater diagnostic yield

First-class customer training and support

Customer training is required to implement the CytoScan Dx Assay for both new and existing customers. Different options are available based upon your experience level; please contact us for details.

Intended use

The CytoScan Dx Assay is a qualitative assay intended for the postnatal detection of chromosomal copy number variants (CNV) in genomic DNA (gDNA) obtained from peripheral whole blood in patients referred for chromosomal testing based on clinical presentation. The CytoScan Dx Assay is indicated for the detection of CNVs associated with developmental delay and/or intellectual disability (DD/ID), congenital anomalies, and/or dysmorphic features. Assay results are intended to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice including confirmation by alternative methods, parental evaluation, clinical genetic evaluation, and counseling as appropriate. Interpretation of assay results is intended to be performed only by healthcare professionals board certified in clinical cytogenetics or molecular genetics. The complete CytoScan Dx Suite is a sample to insight solution that includes the CytoScan Dx Array, a reagent kit, the Applied Biosystems GeneChip System 3000 Dx platform for array processing, and user-friendly ChAS Dx software.


Dx Assay Kit
Cytogenetics, Copy Number
Number of Arrays
24 arrays
Genechip Probe Array
Number of Markers
2.69 million markers


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