Rare Disease Copy Number Analysis

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.

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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.

Young mom lifting up her daughter
Young mom lifting up her daughter
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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
  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.

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