CytoScan™ Dx Assay Kit (Thermo Scientific™)

The American Academy of Neurology (AAN), the American College of Medical Genetics (ACMG), and the International Collaboration for Clinical Genomics (ICCG/ISCA) recommend chromosomal microarray analysis (CMA) as the first-line test to aid in the diagnostic evaluation of intellectual disability.^1,2,3 The CytoScan Dx Assay is the first and only FDA-cleared chromosomal microarray test to aid in the identification of the underlying genetic cause of developmental delay, intellectual disability, congenital anomalies, or dysmorphic features in children.

> Access software, manuals, and documentation via the CytoScan Dx Portal (login required).

Key benefits:
First of-its-kind diagnostic test—FDA-cleared and CE marked 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 2013 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

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 assay is intended to be used on the GeneChip System 3000Dx and analyzed by Chromosome Analysis Suite Dx Software (ChAS Dx Software).

WARNING:
This device is not intended to be used for standalone diagnostic purposes, pre-implantation or prenatal testing or screening, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations. Interpretation of assay results is intended to be performed only by healthcare professionals, board certified in clinical cytogenetics or molecular genetics.

Technical features and limitations**
• The smallest CNV regions that ChAS Dx calls are 25 kb and 25 markers for losses, and 50 kb and 50 markers for gains. Performance of the assay has not been assessed below these settings.
• Mosaic copy number <20% may not be reliably detected and detection sensitivity is affected by the size of the CNV.
• Loss (absence) of heterozygosity (LOH/AOH) has a filter setting of 3 Mb. Performance of the assay has not been assessed for LOH below this setting for reporting.
• CytoScan Dx Assay cannot identify balanced chromosomal rearrangements, such as translocations or inversions.
• The assay is validated for use with peripheral whole blood anticoagulated with heparin or EDTA. It has not been validated for any other specimen type.
• CytoScan Dx Assay is limited to personnel trained in this assay.

*Links in ChAS Dx to external databases such as Database of Genomic Variants (DGV) have not been evaluated or curated by Thermo Fisher Scientific.
**For details on technical performance and a full list of limitations, please refer to the IFU (for registered users at www.affymetrix.com/IVD).

References
1. Michelson D. J., et al. Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 77(17):1629-1635 (2011).
2. Miller D. T., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics 86(5):749-764 (2010).
3. Manning M., Hudgins L. Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine 12(11):742-745 (2010).

Access software, manuals, documentation via the CytoScan Dx Portal (login required).