Single Nucleotide Polymorphism (SNP)

High-throughput genotyping analysis using the Illumina™ Infinium SNP microarrays. Supporting all families of Illumina™ genotyping chips, such as HumanCore, HumanOmni and HumanCytoSNP. Samples analyzed using GenomeStudio software are compared to a diverse set of more than 100 samples from the HapMap populations. WiCell Cytogenetics has the capability of performing thousands of assays per month and all results are 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 LOH (Loss of Heterozygosity) / Absence of heterozygosity (AOH)
    • To detect submicroscopic (<5Mb) abnormalities
    • To identify amplified or deleted genes of interest
  • In conjunction with g-banded karyotyping 
    • To define translocation breakpoints
    • For cell line genotyping
    • For research of genomic copy number change

Get started by contacting WiCell today!