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Advancing worldwide genomic insights
GeneDx is a global leader in rare disease diagnosis, providing advanced genetic testing, expert clinical interpretation, and AI-informed genomic analysis to deliver timely, accurate answers that change care.
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Your trusted genomics partner
Who we work with
Here to support you every step of the way
From sample to report, GeneDx offers solutions for every stage of the genetic testing process. Send your genetic testing to GeneDx for a complete, end-to-end solution, or utilize our GeneDx Enterprise™ platform to perform genomic analysis in your lab, anywhere in the world.*
Sample
Blood or buccal kits can be sent to patients and clinicians for sample collection when using our laboratory services.
Sequencing
High-quality sequencing services available for laboratories not able to perform sequencing.
Secondary analysis + tertiary analysis + report generation + sign-out
Secondary (short-read) and tertiary (short- and long-read) analysis can be performed by your own experts in your own lab using our cloud-based, AI-driven GeneDx Enterprise™ software.
Or GeneDx can provide analysis, report generation, and sign-out services using your sequencing raw data to support your team with interpretation; API integration for automated delivery is available.
Support
Our global team of client success managers and 320+ genetics and bioinformatics experts is here to support every step.
Comprehensive genetic testing solutions
Flexible testing options designed to support a wide range of clinical applications.
Exome sequencing
Looks at the protein-coding regions of approximately 20,000 genes—where the majority of known disease-causing variants are found—to help identify the molecular basis of suspected genetic disease.
Genome sequencing
Looks at coding and noncoding regions across the genome to identify genetic variants that may contribute to disease, providing a more comprehensive view when broader analysis is needed beyond exome sequencing.
Rapid testing
Expedited exome** and genome sequencing options designed to support time-sensitive clinical decision-making in critical care settings. Turnaround time: Results within 5 days.†
Prenatal testing
Exome, genome, and panel testing to support evaluation of fetal anomalies and abnormal ultrasound findings.
Multigene panel testing
Xpanded® panels across key clinical areas including neurology, cardiology, immunology, and metabolic disorders using a trio approach that includes concurrent analysis of the patient and both parents.
Clinical support
Our expert team provides personalized support both before and after sample submission, including assistance with trio and duo sample coordination, results interpretation, genetic counseling §, and more.
Streamlining the ordering process
- Exome and genome ordering checklist (Canada)
Download guide - Exome and genome ordering checklist (All other countries)
Download guide - Fillable commercial invoices (By sample type)
Commercial invoice - Blood
Commercial invoice – Buccal
Commercial invoice – Extracted DNA
Commercial invoice – Amniotic fluid
GeneDx Enterprise™: Decentralized genomic interpretation, powered by centralized intelligence
GeneDx Enterprise™ is our cloud-based, AI-driven platform that enables scalable, sequencer-agnostic genomic analysis. Accelerate interpretation workflows by prioritizing likely disease-causing variants and conditions across genomic, phenotypic, and clinical data, with additional expert review and reporting services available.*
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The GeneDx difference
Exomes & genomes sequenced3
Expertly annotated phenotypes3
Non-European ancestry3
Diagnostic yield of exome/genome sequencing in >300,000 patients
The graph shows the distribution of genetic ancestry in the study cohort 4
Knowledge that goes deeper
Deeper connections between genes and disease
Validated variant classification
A leader in research
Continuous learning from new research
Real-world diagnostic impact
Infinity is shaped by the data of real people and real cases. It helps us see more clearly, diagnose more confidently, and discover insights that lead to better answers for more families—changing what’s possible in rare disease care.
Meet Layla
Layla was born with a bowel obstruction that required two emergency surgeries in her first weeks of life. Considered as a typical short-bowel patient, Layla didn’t respond to treatment as expected. Fortunately, her care team used GeneDx rapid genome sequencing to uncover TTC7A deficiency, a rare condition that affects both the intestines and the immune system. Learn how her treatment drastically changed—helping Layla not just survive, but thrive.
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Meet Jennifer
Jennifer’s pregnancy had been progressing normally, with early serum screening and anatomy ultrasound results within expected range. At her fetal anatomy ultrasound, new findings emerged: Fetal hydrops and bilateral clubfoot. She was referred to a Maternal Fetal Medicine (MFM) specialist to evaluate these findings and discuss next steps.
Helpful resources
NICU Rapid Genome Huddle Sheet
A quick bedside reference designed to help care teams identify infants in the NICU who may benefit from rapid genome sequencing and support testing discussions during everyday workflows.
Prenatal Genetic Testing Solutions
An overview of CMA, ExomeDx™ Prenatal, and GenomeDx™ Prenatal test options, designed to help you choose the right prenatal genetic test for your patient.
Rapid Genomic Sequencing in the NICU: Supporting Care Decisions, Workflows, and Families
Learn how earlier genetic insights can influence care coordination, interdisciplinary workflows, and family communication in the NICU.
Canadian Collaborations Deliver New Answers for Rare Disease Patients
Research collaborations involving GeneDx and Canadian partners are unlocking new diagnostic answers for patients around the world.