Comparative Genomic Hybridization (CGH) + Single Nucleotide Polymophism (SNP) Microarray

CGH and SNP analysis of genomic DNA from human pluripotent stem cells using the Agilent SurePrint G3 Human Genome CGH+SNP Microarray. Capture genomic changes and verify results simultaneously on a single microarray. Assay performed by WiCell cytogenetics and reviewed by an ABMG-certified director. 

What it detects:

  • Genomic gains and losses 
    • Copy number variants (CNVs)
    • Duplications/deletions
    • Unbalanced translocations
    • Aneuploidies
  • Copy neutral aberrations
    • Loss of heterozygosity (LOH) / Absence of heterozygosity (AOH)
  • >20% mosaicism (for example: cultures where >1 of 5 cells is trisomy 12)

What it doesn't detect:

  • Balanced translocations
  • Inversions
  • <20% culture mosaicism (for example: cultures where 1 of 5 cells is trisomy 12
  • Chromosomal position of genomic gains

When to use:

  • As a baseline genomic screen
    • To detect submicroscopic (<5Mb) abnormalities
    • To identify amplified or deleted genes of interest
  • In conjunction with g-banded karyotyping
    • To define translocation breakpoints
  • For research of genomic copy number change
    • To identify structural variation within populations or disease cohorts
    • To develop a cell line copy number variant profile

Get started by contacting WiCell today!