CNGnome NGS Array
A new gold standard for CNV detection
The CNGnome® NGS Array is setting new benchmarks for copy number variant identification using genomic sequencing technology and advanced bioinformatics techniques.
Using low pass genome sequencing, this test detects large copy number changes (CNVs) greater than or equal to 25kb throughout the genome and reliably detects chromosome uniparental disomy.
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Increased resolution over traditional karyotype and microarray analysis
- Reliable detection of copy number changes larger than 25kb throughout the genome.
- Reliable detection of whole chromosome uniparental disomy.
Identification of other clinically relevant findings
Reliably detects unbalanced chromosomal translocations, aneuploidies and mosaicism.
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 imposed by permanent probe selection and placement.
Performance check compared to karyotypes and traditional arrays
| Resolution | CNGnome NGS Array | Probe-based arrays |
|---|---|---|
| Microdeletions | ≥25 Kb | ≥25 Kb - ≥1 Mb |
| Microduplications | ≥25 Kb | ≥50 Kb - ≥5 Mb |
| Regions of homozygosity | >5 Mb | >5 Mb - >10 Mb |
| Gene coverage | 100% of exons in OMIM genes | Varies depending on probe placement |
Testing options
Other Technologies
Prenatal Analysis
Standard Analysis
How to order
Step 1
Test selection and place order
Step 2
Specimen collection and shipment
Step 3
Get results
How to order
1. Choose your test
Select the correct test for your patient and fill out Clinical Genomics test requisition form.
- Please make sure that all sections are completed, and that the patient has signed an informed consent form.
2. Collect a sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.
- Ensure that the patient sample is labeled with the patient’s name and date of birth.
3. Send a sample
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 Revvity Omics for processing.
- We ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
- When should I use the CNGnome NGS Array?
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.
- What sample types do you accept?
Revvity Omics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.
- What is the price of the CNGnome NGS Array?
For pricing, please email Revvity Omics or call us at 1-866-354-2910.
- How long does it take to receive results from the CNGnome NGS Array?
The CNGnome NGS Array test has an average turn-around-time of 10-12 days from the sample receipt in processing laboratory.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.