MyOme - Rare Disease Genome

What is our Genome test?

Our genome test analyzes 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 Sequencing

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), copy number variants (CNVs), certain mitochondrial variants, and tandem repeat expansions (TREs). Variants are filtered based on the patient’s clinical phenotype and inheritance patterns to refine interpretation.

Testing can be ordered as proband-only or with up to two additional family members, limited to biological parents and/or full siblings (duo or trio analysis). When family samples are included, variants are analyzed in the context of inheritance patterns, improving variant interpretation and increasing the likelihood of identifying a disease-causing variant.

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

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.
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*

Sample Types Accepted

Blood
Buccal

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
Mitochondrial and TRE Analysis
Select Methylation Signatures
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.