GeneDx Infinity™
Interpretation built on the largest rare disease dataset
Sequencing tells you what’s there. We tell you what it
means for your patient.
A diagnosis isn't just about detecting a variant, it requires context, pattern recognition, and years of expertise. We bring all of that together into every exome and genome report.
Interpretation in context, not isolation
Every lab can sequence. What sets GeneDx apart is what we do with that sequence, comparing it against the largest rare disease dataset, interpreting it alongside the full picture of how your patient clinically presents, and drawing on 25 years of accumulated understanding of how rare disease actually works.
GeneDx Infinity™, the largest rare disease dataset
Every test is compared to over 1M sequenced exomes and genomes, including a dataset where 50% of cases represent individuals of non-European ancestry.2 That breadth and diversity help our experts interpret variants and recognize disease patterns other laboratories may never have encountered.
A complete view of your patient
We integrate clinical notes, prior genetic testing, and phenotypic data into every interpretation pulling out the clinically relevant signals so the interpretation reflects how your patient is actually presenting, not just what their DNA contains.
Deep expertise in gene-disease relationships
25 years of curated data that strengthens our understanding rare disease and its causes -continuously updated with emerging research and new gene–disease discoveries.
Your patient's case, interpreted in the context of every case before it
When your patient's genomic sequencing case comes to GeneDx, it's evaluated against every other clinical case we've performed exome and genome on. That means we can recognize presentations others haven't encountered, identify patterns across thousands of similar patients, and distinguish variants that consistently drive disease from ones that don't. That kind of pattern recognition only comes from scale and no one has seen more rare disease than GeneDx.
1M+
Exomes & genomes sequenced ²
2.5M+
Genetic tests ²
50%
Non-European ancestry ²
No one has seen more rare
disease than GeneDx®.
disease than GeneDx®.
A complete view of your patient
Every interpretation starts with the full picture of your patient: who they are, how they're presenting, what they've already been through. Because what we find in the DNA means more when we understand the patient it came from.
We integrate clinical notes, prior genetic testing, and phenotype data into every interpretation pulling out the clinically relevant signals so the interpretation reflects how your patient is actually presenting, not just what their DNA contains.
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Clinical presentation
The more of your patient's clinical picture that you provide - clinical features, imaging, and medical history - the more precisely we can assess genetic variants identified.
Clinical notes & prior testing
We review what your patient has already been through: prior genetic tests, specialist notes, ICD- 10 coding history, so our interpretation builds on the work already done rather than starting from scratch.
Family & parental data
When parental samples are available, interpretation gets sharper. We can identify de novo variants, ones that arose in your patient and weren't inherited, and clarify inheritance patterns that would otherwise remain uncertain. More than 60% of our cases include parental data, strengthening the confidence of what we report. 2
Knowledge that goes deeper
Other labs can grow their datasets. What they can't fast-track is 25 years of curated understanding of the genetic basis of rare disease, the gene–disease relationships, the variant classifications built case bycase, and the institutional knowledge that shapes how every finding is interpreted.
Deeper connections between genes and disease
GeneDx has curated over 10,500 gene–disease associations, including nearly 5,000 validated relationships and over 5,600 emerging associations. 2
Validated variant classification
With >430,000 ClinVar submissions, GeneDx maintains >99% concordance with consensus determinations. Nearly 40% of our variants have never been submitted by any other lab. 3
A leader in research
105,000+ candidate gene findings, 22% of GeneMatcher's total submissions. Our collaborative research has led to 500+ new gene disease associations.2 We've also contributed to over 1,100 peer-reviewed publications, continuously shaping what the field knows about rare disease.2
Continuous learning from new research
We continuously monitor emerging literature and integrate new gene–disease associations in realtime
More context means fewer unanswered questions
Bringing together our expansive dataset with our internal knowledge - we are able to prioritize the variants most likely responsible for disease, filtering through noise and strengthening interpretation.
~40%
of our ClinVar submissions have only been submitted by GeneDx and no other lab
99%
Concordance with consensus ClinVar determinations validated across a retrospective analysis of more than 400,000 unique variant classifications.2
Stronger variant interpretation
51.4%
Overall molecular diagnostic yield in a large, real-world cohort of almost 330,000 individuals with diverse genetic ancestry — the largest benchmark of its kind4
Technology accelerates. Experts validate.
Our AI tools are trained on more real diagnostic cases than any other lab. They don't replace clinical judgment, they guide our team to focus where their expertise matters most.
Enable deeper analysis
Give experts more time to evaluate the most clinically meaningful findings
Accelerates time to answers
Streamline interpretation so results can be delivered faster
From sample to answer
Sequencing is the starting point. What determines diagnostic yield is what happens next: how findings are interpreted, in what context, and against what depth of prior evidence.
Sample collection & clinical context
Patient DNA is sequenced in our CLIA certified and CAP accredited lab. Clinical history, ICD-10 codes, phenotypes, and prior test results are digitized — giving interpreters the full picture before analysis begins. Every case is evaluated in the context of the full patient.
Comparison against Infinity
Each patient's genome or exome is compared against our entire dataset. This allows our teams to evaluate each finding in the context of a rare disease cohort and using population data.
AI-assisted variant & gene prioritization
MIMI Ranker and MultiScore help filter down to the variants that are most likely to be clinically relevant. These tools combine variant data, phenotype, allele frequency, and gene-level knowledge from Infinity - letting experts focus where clinical judgment matters most.
Expert review & actionable report
Each case is reviewed and signed off by a genetics expert. Findings are delivered in a clear report with variant detail, gene–disease context, and recommended next steps - built for real clinical decisions.
Disease discovery never stops.
As new variants are classified and new gene–disease relationships are established, your patients' reports can be updated. A test ordered today can continue generating answers in the future.
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The answer your patient needs, we may already have
With Infinity, you’re not just accelerating discovery, you’re helping families find answers faster and shaping the future of rare disease care.