The American Academy of Neurology (AAN), the American College of Medical Genetics (ACMG), and the International Collaboration for Clinical Genomics (ISCA/ICCG), among other professional associations, recommend chromosomal microarray analysis (CMA) as the first-line genetic test to aid in the diagnostic evaluation of developmental delay, intellectual disabilities, and congenital anomalies.

These guidelines for CMA to replace traditional karyotype and FISH as the first-line genetic testing are due to its greater sensitivity, higher resolution, genome-wide capability, and greater diagnostic yield.

CytoScan Dx Assay is the first and only CMA to receive FDA clearance.

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Detect more chromosomal
aberrations in a single assay

See the brochure ›

The first and only FDA-cleared
chromosomal microarray test

Read the FDA press release ›

Professional associations' recommendations
on the use of CMA

Read the ACMG guidelines ›
Read the AAN guidelines ›
Read the ICCG/ISCA statement ›

For In Vitro Diagnostic Use

*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.

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 aberrtions. 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.

**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).