MyOme - 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

*Turnaround times are provided as estimates and begin once sample(s) are processed at MyOme. Turnaround times may be extended in cases outside of MyOme's control, including delays related to confirmation testing or other unforseen circumstances.

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Interpreting Rare Disease Copy Number Analysis results

Sample Report

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