CNGnome™

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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 and Benefits

  • 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) of only 10-12 days
  • Increased accessibility as a result of industry-leading pricing

 

Testing Options

CNGnome™

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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D0900
CNGnome™
N/A
10-12 days
TEST CODE
D0900
TEST NAME
CNGnome™
NUMBER OF GENES
N/A
TURN AROUND TIME
10-12 days
CNGnome™ with Whole Exome Sequencing
TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D1000C
Whole Exome Sequencing, Proband ONLY, Plus CNGnome
WES
4 weeks
D1010C
STAT Whole Exome Sequencing, Proband ONLY, Plus CNGnome
WES
7-10 days
D1005C
Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
WES
4 weeks
D1020C
STAT Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
WES
7-10 days
D1300C
Whole Exome Sequencing, TRIO, Plus CNGnome
WES
4 weeks
D1310C
STAT Whole Exome Sequencing, TRIO, Plus CNGnome
WES
7-10 days
D1301C
Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
WES
4 weeks
D1305C
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
WES
4 weeks
D1320C
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
WES
7-10 days
D1306C
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
WES
4 weeks
D1311C
STAT Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
WES
7-10 days
D1321C
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
WES
7-10 days
TEST CODE
D1000C
TEST NAME
Whole Exome Sequencing, Proband ONLY, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1010C
TEST NAME
STAT Whole Exome Sequencing, Proband ONLY, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1005C
TEST NAME
Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1020C
TEST NAME
STAT Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1300C
TEST NAME
Whole Exome Sequencing, TRIO, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1310C
TEST NAME
STAT Whole Exome Sequencing, TRIO, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1301C
TEST NAME
Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1305C
TEST NAME
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1320C
TEST NAME
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1306C
TEST NAME
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1311C
TEST NAME
STAT Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1321C
TEST NAME
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
CNGnome™ with Whole Genome Sequencing

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

FAQs

What is the CNGnome™ test?

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

When should I use the CNGnome™ test

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.
How does the CNGnome™ test compare to karyotypes and traditional arrays?
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% ++
How long does it take to receive results from the CNGnome™ test?

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

What is the price of the CNGnome™ test?

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

What sample types do you accept?

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

How to Order

  • Select the correct test for your patient, and fill out the Clinical Genomics test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
      • If the CNGnome™ test is being ordered in combination with WES or WGS, please be sure to fill out all appropriate sections, including the family member section for TRIO orders.
    • Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent to you directly.
      • Ensure that the patient sample is labeled with the patient name and date of birth.
    • Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
      • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.

Where are you located?