The Menlo Park-based company is integrating epigenetic signatures into its rare disease diagnostics offering, with the new capability set to roll out automatically in early Q2 2026.

MyOme, a clinical whole-genome analysis company, announced two major developments at the American College of Medical Genetics and Genomics Annual Meeting: a strategic partnership with Natera to launch the Zenith test portfolio and the introduction of long-read methylation analysis for rare disease diagnostics.

The Zenith portfolio, available for commercial orders through Natera, brings MyOme’s genome-first platform to Natera’s clinical network across the US. The offering includes both exome and genome testing options and is designed to leverage Natera’s electronic medical records (EMR) integration, clinical support infrastructure, and experience in high-complexity genomics.

“Rare disease patients and their families endure lengthy and costly diagnostic journeys that often delay care and escalate emotional and financial strain,” says Meredith Reichert, PhD, senior vice president of commercial and general manager of rare disease at Natera, in a release. “By combining MyOme’s innovation with Natera’s nationwide presence and clinical expertise, Zenith has the potential to provide definitive answers to more families.”

Adding Epigenetic Analysis to Whole-Genome Sequencing

The second announcement centers on MyOme’s integration of methylation analysis into its whole-genome platform. Traditional genetic testing identifies changes in DNA sequence but requires separate testing to evaluate epigenetic modifications—chemical changes that affect how genes are expressed without altering the underlying sequence. MyOme’s new approach uses long-read sequencing to analyze both DNA sequence and methylation patterns simultaneously, enabling detection of disease-related epigenetic signatures in a single workflow.

According to the company, rare disease patients face an average five-year diagnostic delay, and recent meta-analyses support the view that a genome-first approach increases diagnostic yield and clinical utility compared to legacy exome methods.

At launch, the platform will perform targeted confirmation for select conditions, with plans to expand the list of available disease areas over time. Clinically, the added capability is intended to help resolve variants of uncertain significance when a methylation signature is available for a given gene, and to assist in resolving imprinting conditions when parental samples are unavailable.

“It is increasingly clear that the next frontier in addressing rare diseases involves probing genome function alongside sequence,” says Akash Kumar, MD, PhD, chief medical officer at MyOme, in a release. “By introducing methylation analysis using long-read sequencing, we are taking an important step for comprehensiveness—one that can detect what standard sequencing approaches might miss on their own.”

Starting in early Q2 2026, methylation analysis will be automatically integrated into all eligible rare disease exome and whole-genome sequencing analysis orders placed through MyOme. The company is certified under the Clinical Laboratory Improvement Amendments and certified by the College of American Pathologists.

ID 76892614 © Artem Egorov | Dreamstime.com

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