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For families struggling with the diagnostic odyssey

Recommend the new standard in chromosomal microarray analysis (CMA) testing

Are your patients able to access the CMA genetic testing they need or are you fighting for coverage with insurance companies?

CytoScan Dx Assay is the only FDA-cleared whole-genome microarray test to aid in the diagnosis of developmental delay and intellectual disability.* CytoScan Dx Assay is not investigational and improves patient access to testing by decreasing the number of

  • insurance denials
  • written appeals
  • peer-to-peer reviews

Demand the best in patient care.
Ask your laboratory about CytoScan Dx Assay today for CMA genetic testing.

For In Vitro Diagnostic Use.

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See how Children's National Molecular Laboratory saves money and improves patient access to CMA genetic testing with CytoScan Dx Assay.

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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.
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Recommendations on the use of CMA genetic testing
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Access the test from our Centers of Excellence
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Detect more chromosomal aberrations in a single assay

*Intended Use:
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. 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).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.

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.

    • **For details on technical performance and a full list of limitations, please refer to the IFU.

 

References:

  1. Trakadis Y., Shevell M. Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis. Developmental Medicine and Child Neurology53(11):994-999(2011). doi:10.1111/j.1469-8749.2011.04080.x
  2. Wordsworth S., et al. Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom. Genomic Medicine1(12):3545 (2007). doi:10.1007/s11568-007-9005-6
  3. Regier D. A., Friedman J. M., Marra C. A. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.American Journal of Human Genetics86(5):765-772 (2010). doi:10.1016/j.ajhg.2010.03.009
  4. 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 Genetics86(5):749-764 (2010). doi:10.1016/j.ajhg.2010.04.006
  1. South S. T., et al. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genetics in Medicine15(11):901-909 (2013). doi:10.1038/gim.2013.129
  2. Satya-Murti S., Cohen B. H., Michelson D. Chromosomal microarray analysis for intellectual disabilities: template coverage policy. American Academy of Neurology (2013).
  3. 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. Neurology77(17):1629-1635 (2011). doi:10.1212/WNL.0b013e3182345896 [Note: In October 2011, the American Academy of Pediatrics endorsed this article. Link]