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Rare Disease Genome

Rare Disease Genome Analysis

What is our Genome test?

Our genome test detects both protein coding and non coding regions of the genome, providing a comprehensive assessment for patients suspected of having an underlying genetic condition.

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Comprehensive Whole Genome Analysis

Our Genome Test offers the most comprehensive analysis of disease-causing genetic variations across both coding and non-coding regions of the genome, detecting single-nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variants (CNVs). Variants are filtered based on the patient’s clinical phenotype and inheritance patterns to refine interpretation.

Testing can be ordered as proband only or include up to two first-degree relatives, duo or trio analysis. When family samples are included, variants are analyzed together, improving interpretation and increasing the likelihood of identifying a disease-causing variant.

Family with a toddler
Family with a toddler
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Genome testing is recommended as a first line test for the following indications:

  • Multiple congenital anomalies (MCA)1
  • Developmental delay (DD)1
  • Intellectual disability (ID)1
  • Epilepsy2

Genome testing can also be considered for those with:

  • Broad Differential Diagnosis
  • Previous genetic testing uninformative
  • Suspected genetic condition with genetic heterogeneity
  1. Manickam, Kandamurugu, et al. "Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)." Genetics in Medicine 23.11 (2021): 2029-2037.
  2. Smith, Lacey, et al. "Genetic testing and counseling for the unexplained epilepsies: an evidence - based practice guideline of the National Society of Genetic Counselors." Journal of Genetic Counseling 32.2 (2023): 266-280.

Test Code

PR51049

Genome Analysis, Proband

PR51058

Genome Analysis, Duo

PR51063

Genome Analysis, Trio

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)

Reanalysis Policy

One time at no charge (starting one year after the initial order)

CPT Codes

81425 (proband)**

81426 (per family member)**

Includes

  • Comprehensive report with known actionable recommendations and relevant variants of uncertain significance
  • Confirmation of all reported variants by a secondary technology if warranted

Optional

  • ACMG Secondary Findings for proband and parents (separate reports for each member)
  • 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.

Order a Rare Disease Genome test

We make it easy to order MyOme's Rare Disease Genome Analysis. Talk to your healthcare provider to learn more and start diagnostic testing today.

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Learn more about Rare Disease

Rare Disease Product One Pager Rare Disease Billing Overview
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