Rare Disease Copy Number Analysis
What is our Copy Number Analysis test?
This test detects genome-wide copy number variants correlated to a patient’s symptoms or phenotype.



Whole Genome Sequencing for CNV Detection
This test uses whole genome sequencing to identify genome-wide copy number variations, deletions and duplications, related to the patient's phenotype.




Copy Number Analysis may be considered for patients with the following:
- Multiple congenital anomalies (MCA)1
- Developmental delay (DD)1
- Intellectual disability (ID)1
- Autism spectrum disorder (ASD)1
- Miller, David T., et al. "Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies." The American Journal of Human Genetics 86.5 (2010): 749-764.
Test Code
PR51001
Turn Around Times
From initial sample received, approximately 5 to 6 weeks.*
Acceptable Sample Types
- Blood
- Buccal
- Saliva
Acceptable Billing Types
- Insurance Coverage
- Institutional
- Self-Pay
- Financial Assistance (such as interest-free payment plans, income and family based financial assistance, and prompt-pay discounts if available)
CPT Codes
81349**
Included
- CNV report similar to a CMA report
- Comprehensive report with known actionable recommendations and relevant variants of uncertain significance
- Confirmation of reported variants by a secondary technology if warranted
Optional
- Reflex to Exome or Genome Analysis
- Genetic counseling
Order a Rare Disease Copy Number test
We make it easy to order MyOme's Rare Disease Copy Number test. Talk to your healthcare provider to learn more and start diagnostic testing today.


Learn more about Rare Disease


