Leveraging genomic sequencing technologies and bioinformatics tools, the CNGnome™ test by PerkinElmer Genomics is creating a new standard for detecting large copy number changes (CNV) throughout the genome.

Testing Options

The CNGnome™ test meets, or exceeds, the limit of resolution across the entire genome (both targeted and non-targeted regions) when compared to karyotypes and most traditional microarrays.

CNGnome™ analysis is automatically included as a part of all WGS tests.

CNGnome™ analysis is automatically included as a part of all WGS tests.

Why PerkinElmer Genomics

PerkinElmer Genomics’ CNGnome™ comes with the following features:

  • Increased resolution over traditional karyotype and microarray analysis
    • Reliable detection of copy number changes larger than 25kb throughout the entire genome.
  • Experience the advantages of a hybridization-free, non-probe based approach to CNV detection
    • Better accuracy and precision in defining CNVs as the assay is not limited by probe spacing and density
    • Coverage across the Genome as opposed to limitations incurred by permanent probe selection and placement
  • Ability to pair the CNGnome™ test with Whole Exome (WES) or Whole Genome (WGS) Sequencing in a single test order
  • Fast Turn-Around-Time (TAT) of only 21 – 28 days
  • Increased accessibility as a result of industry-leading pricing


The CNGnome™ genetic test leverages genomic sequencing technologies and bioinformatics tools to detect large copy number changes (CNV) throughout the genome.

Potential Indications for Testing:

  • First-line test for patients with intellectual disability or global developmental delays (Moeschler et al 2014 PMID: 25157020).
  • First-line test for individuals with multiple congenital anomalies (Miller et al. 2010 PMID 20466091).
  • Patients with autism/autism spectrum disorders (ASDs).
  • Patients with suspected chromosomal imbalances including micro-deletion syndromes.
  • Previously negative karyotyping and/or chromosomal microarray results.
  • Determine breakpoints of chromosomal rearrangements previously detected by conventional cytogenetic methods, BAC arrays, and other less sensitive arrays.
Traditional Karyotype Traditional
BAC-based Arrays
Traditional Oligonucleotide
Limit of Resolution Targeted Regions 3Mb > 100kb 20-50kb 25kb
Non-Targeted Regions 3Mb Varies 100-250kb 25kb
~3% 11-15% 11-15% + 11-15% ++*

Results from the CNGnome™ test are generally available in 10-12 days.

For pricing, please email PerkinElmer Genomics or call us at 1800-419-1400.

PerkinElmer Genomics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.