The enhancements expand short tandem repeat analysis, enable methylation detection for Fragile X syndrome, and improve structural variant interpretation.
Baylor Genetics has announced enhancements to its whole genome sequencing test, incorporating optical genome mapping and long-read sequencing as supplemental technologies. The Houston-based diagnostic genomics laboratory says the additions—alongside previously available RNA sequencing—are designed to provide a more precise view of a patient’s genome and deliver more diagnostic answers for patients with unresolved clinical presentations.
Both optical genome mapping and long-read sequencing will be reflexed automatically to eligible cases where a qualified variant identified through the whole genome sequencing test may benefit from deeper analysis. According to the company, the enhancements support three key capabilities:
Expanded short tandem repeat analysis, increasing gene coverage from 29 to 58 genes associated with neurological, neuromuscular, and other conditions
Methylation analysis to detect FMR1 methylation status for Fragile X syndrome
Complex structural variant analysis to augment detection and improve interpretation of potential rearrangements identified through standard whole genome sequencing
The company says the results from these supplemental technologies may reveal clinically significant information for providers treating patients with unresolved clinical features, progressive neurologic symptoms, and FMR1-related clinical presentations.
Addressing the Diagnostic Gap in Rare Disease
The enhancement reflects broader efforts within clinical genomics to close the diagnostic gap for patients with rare diseases—a population that frequently completes genetic testing without receiving a definitive answer.
“While genomic sequencing is increasingly the standard of care for patients with rare disease, too many patients still complete testing without receiving the answers they need,” says Christine Eng, MD, chief medical officer and chief quality officer at Baylor Genetics, in a release. “At Baylor Genetics, we believe that more answers are possible. Our multimodal approach to testing is designed to uncover deeper insights that meaningfully guide patient care.”
Availability
Baylor Genetics says optical genome mapping and long-read sequencing will be available as part of its whole genome sequencing test in late March 2026.
