• Test Code: OM001

Test Description

Chromosomal microarray test (CytoScan Dx) can detect copy number variation (CNV) (deletion >25kb, duplication >50kb) and loss of heterozygosity (LOH) (>3Mb) across the entire genome. We report all CNVs of >400kb and clinically significant CNVs of any size. And we also consider reporting LOH associated with clinically significant situations such as uniparental disomy (UPD) or consanguinity.

References

  1. DGV (Database of Genomic Variants)
  2. DECIPHER (Database of genomic variation and Phenotype in Humans using Ensembl Resources)
  3. ClinGen (Clinical Genome Resource)
  4. G-CMA Database (GC Genome In-house CMA Database with ~5,000 Cases)

Ordering information

  • Turnaround time: 9 Days
  • Specimen: EDTA WB 3ml
Specimen requirements
Test Requisition Form

Assay information

  • Detectable variant types: 550,000 CNV Markers, 200,436 SNP Markers
  • Target region: 23 pairs of chromosome
  • Resolution of CNVs detection
    • 25kb for copy number loss
    • 50kb for copy number gain
  • Detection of LOH: > 3Mb
  • Test method: microarray
  • Test Chip: CytoScan DX Assays
  • Reference genome: GRCh37/hg19
  • ISCN: ISCN2020
Gene List.pdf

Result

The test results will be provided according to the designated TAT. Review the sample report to see how the results are structured.

Sample report

Limitations

  • Low levels of mosaicism, balanced translocation, inversion, and point mutations cannot be detected.
  • If the LOH area is small or is a heterodisomic UPD, UPD may not be detected on the test principle.
  • Undetectable CNV area: 13p, 14p, 15p, 21p, 22p, Yq11.23, Yq12 and pericentric heterochromatin regions of all chromosomes

Verifying more specific details about the Test

Link to Product