New technologies enable enhanced short tandem repeat analysis, complex structural variant analysis, and methylation analysis of FMR1
Houston, TX, March 10, 2026 – Baylor Genetics, a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, today announced enhancements to its Whole Genome Sequencing (WGS) test with the addition of optical genome mapping (OGM) and long‑read sequencing (LRS) as supplemental technologies. These advanced technologies — along with RNA sequencing — enable the company’s WGS test to go beyond standard sequencing approaches, providing a more precise view of a patient’s genome and delivering more answers to help guide patient care and outcomes.
Both optical genome mapping and long-read sequencing will be reflexed automatically to eligible cases where a qualified variant discovered through Baylor Genetics’ WGS test may benefit from a deeper analysis. Key enhancements that OGM and LRS will help support:
- Enhanced short tandem repeat (STR) analysis, increasing coverage from 29 to 58 genes with STRs 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 WGS.
The results from these supplemental technologies may reveal clinically significant information to help providers treating patients with unresolved clinical features, progressive neurologic symptoms, and FMR1-related clinical presentations.
“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,” said Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics. “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.”
OGM and LRS will be available in late March.
