Baylor Genetics to Showcase Genetic Testing Innovations for Rare Disease at ACMG 2025 Annual Clinical Genetics Meeting

HOUSTON, March 11, 2025 (GLOBE NEWSWIRE) -- As Baylor Genetics celebrates a decade of leadership at the forefront of genetic testing, it is set to exhibit its latest scientific studies in genetic testing at the 2025 ACMG Annual Clinical Genetics Meeting, taking place March 18-22, 2025, in Los Angeles, CA. The Company will be located at Booth #217 at the Los Angeles Convention Center.

"We are excited to share several recent studies with our colleagues at ACMG, particularly as we continue to make significant strides in variant detection, functional, and clinical significance,” said Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics. “This data underscores Baylor Genetics’ mission to get answers for those living with an undiagnosed rare disease and end the diagnostic odyssey for patients and families.”

At the event, Baylor Genetics will highlight its innovative testing solutions in the rare disease space with one presentation and three poster sessions:

Presentation:

Detecting Mitochondrial Electron Transport Chain Enzyme Defects in Low-Heteroplasmy Single Large-Scale mtDNA Deletion Syndromes (SLSMDs)
Presenter: Xueyang Pan, PhD
Session: Platform Session 5 – Neurodevelopmental & Biochemical Genes
Date & Time: March 21, 1:30 p.m. – 1:45 p.m. (PT)
Location: Petree Hall C

Posters (located in Exhibit Hall):

Reflex RNA Sequencing for Enhanced Variant Classification on ES/GS Improves Patient Outcomes
Presenter: Mei Ling Chong, PhD
Poster ID: P645
Date & Time: March 20, 10:30 a.m. – 11:30 a.m. (PT)

Clinical Significance of mRNA Nonstop Decay in Rare Disease Diagnosis
Presenter: Yue Zhou, PhD
Poster ID: P731
Date & Time: March 20, 10:30 a.m. – 11:30 a.m. (PT)

Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome
Presenter: Veronica Ortiz, PhD
Poster ID: P783
Date & Time: March 20, 10:30 a.m. – 11:30 a.m. (PT)

Attendees can also connect with Baylor Genetics’ team of experts at Booth #217 to explore the latest trends in genetic testing and precision diagnostics. Discover Baylor Genetics’ comprehensive testing portfolio, featuring rapid Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) tests—among the fastest and most accurate precision diagnostic tools available. Learn about RNA sequencing, designed to enhance the detection of specific qualified variants using curated genetic data, expert interpretation, and AI-driven predictive algorithms. With RNAseq, qualified variants can be reclassified, enabling faster and more actionable diagnoses and treatments.

Members of the media are invited to interview Baylor Genetics’ executives and subject matter experts. To schedule a meeting in advance, please contact baylorgenetics@svmpr.com

About Baylor Genetics 
As a pioneer of precision medicine for over 45 years, Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. Through a joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, Baylor Genetics combines rapid and comprehensive precision diagnostics options with the support of genetic counselors to help clinicians avoid a lengthy diagnostic odyssey for their patients, guide medical management, and ensure no patient with a genetic disorder gets left behind. Baylor Genetics’ testing menu covers family planning, pregnancy, neonatal and pediatric testing, oncology, and many other specialized testing options. Located in Houston’s Texas Medical Center, Baylor Genetics serves clients in 50 states and 16 countries. Learn more about what’s next.

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