ASHG 2026 · Diagnostics & clinical labs

GeneDx at ASHG 2026

Stamford, Connecticut

GeneDx at ASHG 2026 in Montréal: 8 presentations (4 posters, 3 platform talks, 1 lightning talk); Booth 616.

8
presentations on the program
1
Reviewers’ Choice abstracts
616
exhibit booth

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OrganizationASHG 2026 Attendance
GeneDx
Stamford, Connecticut
1 Senior Vice President of Medical Affairs · 1 Senior Health Economics & Outcomes Research Scientist · 1 Clinical Data Scientist · 1 Senior Genetic Counselor
Public company
GeneDx sells clinical exome and genome testing, clinical interpretation, and genomic insights. It serves healthcare providers and biopharma partners.
GeneDx launched redesigned exome and genome reports to make genomic insights easier for non-genetics clinicians to use directly.
GeneDx launched redesigned exome and genome reports to make genomic insights easier for non-genetics clinicians to use directly.
2026-08 · source
GeneDx appointed Mark Gardner as president effective June 2026, a new leader for its next growth phase.
2026-06 · source
GeneDx and Zevra Therapeutics launched a genetic testing program for Niemann-Pick disease type C, opening a rare-disease outreach channel.
2026-03 · source
Source: company newsroom
Q2 2026 revenue $114.4M, up 11%
FY2026 guidance of $475M-$490M points to continued growth in exome and genome testing volume. · 2026-08-03
“Revenue grew to $114.4 million, an increase of 11% year-over-year.”
Source: results release
Booth
Exhibiting at Booth 616
Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm
Talk
Wed Oct 21
11:15 am
Genomic newborn screening across diverse genetic ancestries: GUARDIAN screen‑positive rates and variant findings among >19,000 newborns
The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges
Collaborators: Columbia University Irving Medical Center, Boston Children's Hospital +1 more
Genetic testingLaboratory genetics and genomicsNewborn screening
Talk
Wed Oct 21
1:39 pm
Real-world prevalence of clinically significant RNU4-2 variants and the value of genotype-first reanalysis
Clinical Genetics Across the Lifespan: From Gene Discovery to Prenatal, Developmental, and Pharmacogenomic Insights
DiagnosticsExome/genome sequencingNeurodevelopmentalNon-coding RNA
Poster
Wed Oct 21
2:30 pm
Budget Impact Analysis of Adopting First-Line Exome/Genome Sequencing Policy For Pediatric Commercially Insured Patients with Neurologic Disorders: A SAVES-Kids Study
Health Services Research and Implementation Science
Policy issuesExome/genome sequencingEpilepsyIntellectual and developmental disability
Talk
Thu Oct 22
9:15 am
Continuous clinical prioritization of copy number variants (CNVs) through dynamic feature reconstruction
Machine Learning-Driven Approaches to Variant Classification and Prioritization
Rare variantsCopy number/structural variationGenetic testingMachine learning
Talk
Thu Oct 22
1:30 pm
Factors influencing molecular diagnostic yield in a clinical autism exome sequencing cohort of over 68,000 individuals
Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders
Collaborators: Massachusetts General Hospital, Broad Institute
AutismExome/genome sequencingIdentification of disease genesLaboratory genetics and genomics
Poster
Fri Oct 23
2:30 pm
Leveraging longitudinal real-world data to characterize seizure phenotypes in CSNK2A1-related disorder
Mendelian Phenotypes
Characterization of disordersElectronic health recordsEpilepsyGenotype-phenotype correlations
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Real-world prevalence of clinically significant RNU4-2 variants and the value of genotype-first reanalysis
Mendelian Phenotypes
DiagnosticsExome/genome sequencingNeurodevelopmentalNon-coding RNA
Poster
Fri Oct 23
2:30 pm
AI-assisted phenotype gestalts from 188,132 individuals inform diagnostic yield and reimbursement rate
Artificial Intelligence and Machine Learning
Artificial intelligenceExome/genome sequencingLaboratory genetics and genomicsPhenotype

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