About CNGnome®

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.

Features & Benefits of CNGnome®

Increased resolution over traditional karyotype and microarray analysis

    • Reliable detection of copy number changes larger than 25kb throughout the entire genome
    • Reliable detection of whole chromosome uniparental disomy

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

Seamlessly pair the CNGnome® test with any of our test offerings or order on its own

    • The CNGnome® test is always included with your whole genome sequencing order at no additional charge
  • Fast Turn-Around-Time (TAT) with results available in an average of 10-12 days
  • Increased accessibility as a result of industry-leading pricing
Order Testing


CNGnome® Test

Test Resources

Sample Report
Test Requisition Form

How to Order

1. Choose Your Test


2. Collect Sample


3. Send Sample


CNGnome® Test FAQs

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

Traditional Karyotype Traditional Oligonucleotide Arrays Traditional SNP Arrays CNGnome™
Limit of Resolution Targeted Regions 3Mb 20-50kb 20-50kb 25kb
Non-Targeted Regions 3Mb 100-250kb 100-250kb 25kb
Clinical Sensitivity ~3% ~11-15% + ~15-18% + ~18-21% ++

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.
  • Suspected uniparental isodisomy
  • Suspected autosomal recessive condition due to close familial relations (consanguinity)
  • 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.

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

For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.

The CNGnome® Test test has an average turn-around-time of 10-12 days.

Contact PerkinElmer Genomics for more information