MyOme Expands Rare Disease Test with New Genome Insights

Now including Tandem Repeat Expansions confirmed with Long-Read Sequencing and Comprehensive Mitochondrial Genome Analysis.

MENLO PARK, Calif., Sept. 18, 2025 /PRNewswire/ -- MyOme, a leading genomics innovation company, today announced the expansion of its rare disease test to include tandem repeat expansions (TREs) and mitochondrial genome analyses.  Both analyses come standard with every MyOme Rare Disease Test—at no additional burden to patients or providers. This advancement is made possible through MyOme's genome platform that includes long-read technology to unlock deeper, more comprehensive insights. By integrating TREs and mitochondrial genome analysis, MyOme's platform helps patients and providers reach more accurate diagnoses for conditions that often go undetected with standard testing.

Rare diseases affect an estimated 1 in 10 people worldwide, with families often waiting years and undergoing multiple rounds of testing before receiving answers^1,2. This costs the US Healthcare system roughly $500B per year and costs the US economy roughly $1T including families' lost productivity³. With the updated tests, MyOme now enables detection of disorders like Fragile X syndrome, adult neurological conditions, and certain ataxias⁴ as well as mitochondrial variants that can affect energy production and multiple organ systems.

This expansion comes at a pivotal time. In June 2025, the American Academy of Pediatrics (AAP) updated its guidance to recommend whole exome or genome sequencing as a first-tier test for diagnosing children with unexplained global developmental delay or intellectual disability⁵. 

"We've long believed that patients shouldn't be limited to one-off tests or narrow panels. With a single genome from a single sample, we can now deliver insights that deepen with every scientific advance—empowering patients and providers in a way narrower testing simply cannot" said Dr. Akash Kumar, Chief Medical Officer at MyOme, "With the AAP now recommending genome sequencing as a first-tier test, our vision is becoming the new standard of care. By adding tandem repeat and mitochondrial analysis to MyOme's whole genome platform, we can deliver an even more comprehensive starting point for pediatricians and families— efficiently delivering answers that improve patient outcomes."

Meet MyOme at AAP 2025
MyOme will be at the American Academy of Pediatrics (AAP) National Conference later this month. Attendees are invited to visit the MyOme booth #429 to learn more about the company's rare disease testing and proactive health portfolio, and how genomics can better support families and pediatric care.

For more information, visit https://myome.com/our-tests/diagnostic.

About Rare Disease
Rare diseases affect more than 300 million people worldwide and are often severe, chronic, and life-threatening. Approximately 80% have a genetic origin¹, yet many patients endure a long diagnostic odyssey—averaging 5 to 7 years before receiving an accurate diagnosis². Advances in whole genome sequencing are shortening this journey, helping families access earlier interventions, appropriate care, and the support they need.

About MyOme
MyOme is a clinical whole genome analysis company helping families understand their risk for diseases. As a leader in polygenic and AI-based integrative risk modeling, MyOme leverages the power of the whole genome and clinical data for a lifetime of meaningful and actionable insights. These capabilities can dramatically reduce healthcare costs and improve outcomes by catching disease earlier and taking steps to delay or stop their onset. Certified under the Clinical Laboratory Improvement Amendments (CLIA) and certified by the College of American Pathologists (CAP), MyOme is based in Menlo Park, California.

References

1. Nguengang Wakap S et al. Global, regional, and national burden of rare diseases: a systematic analysis of the Global Burden of Disease Study 2016. Eur J Hum Genet. 2020.
2. Global Genes. Rare Disease: Facts and Statistics. 2023.
3. https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02299-5
4. Paulson HL. Repeat expansion diseases. Handb Clin Neurol. 2018.
5. American Academy of Pediatrics (AAP). Clinical Genetic Evaluation of Children With Global Developmental Delay and Intellectual Disability. Pediatrics. June 2025.

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SOURCE MyOme, Inc