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Rare Disease Exome

Rare Disease Exome Analysis

What is our Exome test?

Our Exome test analyzes the protein-coding regions of the genome to identify variants that may explain the patient's reported symptoms or phenotype.

Genome illustration
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Advanced Exome Analysis with Enhanced CNV Detection

Our exome test provides enhanced coverage of critical regions that standard exomes might miss, increased detection sensitivity for copy number variants, and cost-effective flexibility to expand analysis beyond the exome without additional sequencing. With future-proof data that can be reanalyzed as new discoveries emerge—without requiring a new sample—our advanced technology delivers more complete results, greater diagnostic yield, and superior long-term value, all from a single sample.

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

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Exome 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

Exome 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 Type and Code

PR51017

Exome Analysis, Proband

PR51025

Exome Analysis, Duo

PR51030

Exome 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

81415 (proband)**

81416 (per family member)**

Includes

  • Comprehensive report of any variants known to be or possibly associated with reported phenotype, including VUS
  • Confirmation of all reported variants by a secondary technology if warranted

Optional

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

Order an Exome test

We make it easy to order MyOme's Rare Disease Exome 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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