Houston, July 25, 2025 – Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, today announced their participation at the ReNU Hope Scientific Symposium, taking place July 25, 2025, in Uniondale, NY.
What:
Baylor Genetics will present a scientific poster titled “Utility of Whole Genome Sequencing to Detect RNU4-2 Variants Associated with ReNU Syndrome” at the inaugural ReNU Hope Scientific Symposium, spotlighting its latest clinical findings on this neurodevelopmental disorder.
Who:
Robert Rigobello, MS, certified genetic counselor, senior manager of Medical Affairs, Baylor Genetics
When:
Poster Session: 12:20-1:00 p.m. Eastern
Why It Matters:
ReNU syndrome is a newly described neurodevelopmental disorder (2024) caused by pathogenic variants in the RNU4-2 gene. Symptoms associated with this condition include global developmental delay, intellectual disability, hypotonia, seizures, and brain anomalies. Recent literature estimates that it accounts for an estimated 0.4% of all neurodevelopmental disorders.
The poster details Baylor Genetics’ leadership within the diagnostic discovery of a pathogenic RNU4-2 variant in a pediatric patient using whole genome sequencing (WGS). WGS is a uniquely capable test that can detect multiple variant types that traditional genetic tests may miss.
Key Findings:
- WGS identified a pathogenic RNU4-2 variant in a pediatric patient suspected to have ReNU syndrome.
- The patient did not exhibit seizures or abnormal brain imaging, both of which are common (>50%) in previously described ReNU cases.
- This case expands the known clinical spectrum of ReNU syndrome and demonstrates the diagnostic utility of WGS in shortening the diagnostic journey.
- This case supports reanalysis of WGS data which can make diagnoses as new disease gene discoveries are made.
About Baylor Genetics
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. 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.
Contact for Media Inquiries:
Jared Maxwell
PR and Media Relations
jmaxwell@baylorgenetics.com
801-949-6044
baylorgenetics.com
