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Biochemical Genetics Testing:

Cytogenomic and SNP Microarrays

  • Cytogenomic and SNP Microarrays are Cytogenetic assays to measure copy number changes and subtle variations in constitutional genetics.  

  • KSL uses the CytoScan DX Assay — the 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.

  • 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.

  • 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.

  • Microarray assays are 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. 

Available Tests
Turnaround Time = 10 days, priority given to critically ill patients and infants less than one year of age

References

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  • 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).

  • 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).

  • 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).

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