Diagnostics and clinical labs at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
21 diagnostics and clinical labs are at ASHG 2026 — 67 presentations on the program and 11 with a booth in the exhibit hall. Most represented: LabCorp (19 on the program), Ambry Genetics (11 on the program), GeneDx (7 on the program). 12 of them have their own page in this guide. As of Sep 25, 2026.
Scientific focus
Top represented
Showing 1–4 of 21 organizations
| Organization | ASHG 2026 Attendance |
|---|---|
LabCorp Burlington, Vermont | 1 Lab Director · 1 Senior Applied Research Scientist in Oncology · 1 Data scientist · 1 Statistical Geneticist · 4 other presenters |
Labcorp is a global leader of innovative and comprehensive laboratory services that helps doctors, hospitals, pharmaceutical companies, researchers and patients make clear and confident decisions.
| Booth Exhibiting at Booth 1024 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Session Wed Oct 21 1:30 pm Talk Wed Oct 21 1:43 pm Poster Wed Oct 21 2:30 pm Diagnostic Yield and Clinical Utility of Genetic Testing in Unaffected Relatives with a Family History of Sudden Cardiac Death Genetic testingCardiovascular systemChannelopathiesClinical genetics Poster Wed Oct 21 2:30 pm Preoperative Lynch syndrome diagnosis and surgical outcomes in colorectal cancer: Evaluating resection extent, post-operative complications, and rates of metachronous and other cancers CancerGenetic testingPublic healthCancer syndromes Poster Wed Oct 21 2:30 pm Retrospective virtual panel modeling of carrier and high-risk couples detection by panel size in a large clinical reproductive carrier screening cohort Clinical testingGenetic counselingReproductive geneticsWomen's health Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Sex-driven gaps in guideline-concordant follow-up after population genomic screening for hereditary cancer, cardiovascular, and metabolic conditionsGenetic testingCancer syndromesGenetic epidemiologyPrecision medicine Poster Wed Oct 21 2:30 pm From global calibration to gene-aware evidence: calibrating pathogenicity predictions for real-world variant interpretation Artificial intelligenceVariant interpretationMethodologyGenetic testing Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Ancestry‑wide analysis of real‑world genomic testing reveals clinically relevant disparities in cancer prevalence, immunotherapy biomarkers, and variant actionabilityCancerClinical testingDiagnosticsEpidemiology Talk Thu Oct 22 8:15 am Closing the equity gap in variant classification: Machine learning-driven evidence demonstrates differential impact across race and ethnicity Computational toolsEthical, legal, and social implicationsGenetic testingMachine learning Talk Thu Oct 22 11:30 am Talk Thu Oct 22 2:15 pm Surveying the structural variant landscape in genetic testing: Prevalence and diagnostic yield in a clinical cohort of 1.8 million individuals Clinical geneticsCopy number/structural variationDiagnosticsGenetic testing Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice The impact of an iterative points-based framework on variant classification outcomes for neurodevelopmental disorders.Artificial intelligenceVariant interpretationNeurodevelopmentalClinical testing Poster Thu Oct 22 4:15 pm Applying Single Cell Transcriptomics and Machine Learning to Classify SCN1A Variants According to Disease Mechanism Laboratory genetics and genomicsGenomicsMachine learningGenetic variation Poster Thu Oct 22 4:15 pm A machine learning framework for accurate SMN1 copy number determination from short-read next-generation sequencing data BioinformaticsCopy number/structural variationGenomicsMachine learning Poster Thu Oct 22 4:15 pm Biochemical data and genetic testing: combining datasets to help classify variants Laboratory genetics and genomicsVariant interpretationPhenotypeMetabolic disorder Poster Fri Oct 23 2:30 pm Assessment of Structural and Copy Number Variants in Constitutional Samples Using Electronic Genome Mapping AneuploidyChromosomal abnormalitiesClinical testingCopy number/structural variation Poster Fri Oct 23 2:30 pm Validating gain- and loss-of-function multiplexed assay of variant effect (MAVE) predictions using linked genetic testing and biochemical datasets: a CASR case study Variant interpretationGenotype-phenotype correlationsMendelian disorderRare variants Poster Fri Oct 23 2:30 pm Evidence supporting RPS20 as a colorectal cancer susceptibility gene from a case-control study CancerCancer syndromesGenetic epidemiologyGenetic testing Poster Fri Oct 23 2:30 pm A conversational AI agent for multi-domain clinicogenomic research analytics with layered human-in-the-loop verification Artificial intelligenceComputational toolsDatabasesGenotype-phenotype correlations Poster Fri Oct 23 2:30 pm Single-cell transcriptomic variant effect mapping of clinically relevant MSH3 variants Machine learningMassively parallel sequencingVariant interpretation |
Ambry Genetics Aliso Viejo, California | 2 Scientists · 1 Variant Assessment Scientist · 1 Bioinformatics Scientist and Engineer · 1 Genetic Counselor · 2 other presenters |
Clinical genetic testing laboratory serving healthcare providers with hereditary cancer, rare disease, and specialty genomic testing.
| Booth Exhibiting at Booth 1201 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Talk Wed Oct 21 2:03 pm Concurrent long-read genome sequencing with methylation pattern analysis enhances diagnostic yields in the UCI-GREGoR rare disease cohort BioinformaticsComputational toolsDiagnosticsEpigenetics Poster Wed Oct 21 2:30 pm Multi-Scale Mechanistic Interpretability of Genomic Foundation Models via Layer-Fused Sparse Autoencoders Enables Scalable Non-Coding VUS Resolution GenomicsIdentification of disease genesVariant interpretation Poster Wed Oct 21 2:30 pm Solving Lynch syndrome missing heritability by integrating long-read DNA sequencing and short-read RNA sequencing Cancer syndromesHeritabilityLong-read sequencingMethylation Poster Wed Oct 21 2:30 pm MAVE Progress Report, Clinical Implementation of High-Throughput Functional Assays CancerGenetic testingRare variantsVariant interpretation Poster Wed Oct 21 2:30 pm Optimizing clinical next-generation sequencing workflows through evidence-based expansion of statistical confirmation criteria Exome/genome sequencingTargeted sequencingBioinformaticsClinical genetics Poster Wed Oct 21 2:30 pm Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results Clinical geneticsClinical testingExome/genome sequencingGenetic counseling Poster Wed Oct 21 2:30 pm The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM CancerDiagnosticsGene regulationSplicing mechanisms Talk Thu Oct 22 2:00 pm HiFi long read genome sequencing after negative clinical exome sequencing in a consecutive cohort increases diagnostic yields Rare variantsClinical testingLong-read sequencingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Concurrent Long-Read Genome Sequencing with Methylation Pattern Analysis Enhances Diagnostic Yields in the UCI-GREGoR Rare Disease CohortBioinformaticsComputational toolsDiagnosticsEpigenetics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant ClassificationClinical testingGenetic testingLaboratory genetics and genomicsVariant interpretation Poster Thu Oct 22 4:15 pm Long-Read Genome Sequencing Enables Detection of Pathogenic Tandem Repeat Expansion in the UCI-GREGoR Rare Disease Cohort AtaxiaLong-read sequencingTriplet and other repeats Poster Fri Oct 23 2:30 pm Into the Abyss: Mapping the Landscape of Deep Intronic Pathogenicity CancerVariant interpretationClinical geneticsLaboratory genetics and genomics |
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 |
GeneDx sells clinical exome and genome testing, clinical interpretation, and genomic insights. It serves healthcare providers and biopharma partners.
| 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 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 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 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 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 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 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 reanalysisDiagnosticsExome/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 intelligenceExome/genome sequencingLaboratory genetics and genomicsPhenotype |
Quest Diagnostics Madison, New Jersey | 1 Senior Staff Genomic Variant Scientist · 1 Genomic Variant Scientist III · 1 Sr Manager, Variant Science · 1 Senior Director, Genetics · 1 other presenter |
Clinical laboratory and diagnostic information provider selling genetic tests, advanced diagnostics, and lab services to clinicians, health systems, pharma, biotech, and CROs.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Calibration of population allele frequency evidence for clinical variant classification using a variant-based disease allele frequency threshold determination methodClinical geneticsVariant interpretationGenetic testingLaboratory genetics and genomics Poster Wed Oct 21 2:30 pm Variant-based thresholds for applying population frequency evidence enable increased variant reclassification rates towards benign Genetic testingVariant interpretationLaboratory genetics and genomicsClinical genetics Poster Wed Oct 21 2:30 pm Variant-based gene-specific frequency thresholds for variant classification using ACMG guidelines remain stable across population variant frequency database updates Genetic testingVariant interpretationLaboratory genetics and genomicsClinical genetics Poster Fri Oct 23 2:30 pm Co-occurrence of CLCN1 variants with myotonic dystrophy repeat expansions (DM1/DM2) ChannelopathiesLaboratory genetics and genomicsMuscular abnormalitiesVariant interpretation Poster Fri Oct 23 2:30 pm Detection of Repeat Expansions via PacBio Long-Read Sequencing in Patients Tested for Repeat Expansion Disorders AtaxiaTriplet and other repeatsLong-read sequencingDiagnostics |
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