The largest rare disease dataset, powering progress
GeneDx Infinity™ is one of the most powerful tools for accelerating diagnoses and fueling drug discovery, delivering answers for families worldwide.
A genetic test is only as strong as the data and expertise behind it
Tests
Exomes and Genomes
Phenotypic data points
Built for accelerating diagnosis and drug discovery
Named for its scale and possibility, Infinity grows more powerful with each test
Comprehensive
Infinity captures more than just the patient–it includes parental data in over 60% of cases, adding important familial context that helps surface rare disease insights with greater accuracy and clarity.
Diverse
Infinity reflects the world we live in, not just a narrow slice of it. Approximately 50% of the dataset represents people of non-European descent, supporting more equitable and representative diagnoses for all.
Dynamic
Every test makes Infinity stronger. As more patients are tested, the dataset grows, helping uncover answers faster, connect patterns sooner, and move one step closer to better treatments.
Trusted
We treat every data point with the care it deserves, because it comes from someone’s child, partner, or parent. Infinity is built with strict privacy standards and deep respect for the people behind the data.
How Infinity powers progress
Infinity isn’t just powering individual results, it’s transforming how medicine is practiced, making care more personalized, more equitable, and more effective for everyone.
- Diagnosis with confidence
ExomeDx™ and GenomeDx™ are trusted by leading pediatric and genetics professionals and they’re powered by Infinity. By combining the strength of our data with advanced AI and human expertise, we deliver answers with speed, depth, and clarity that others can’t.
- Discovery at scale
For biopharma partners, Infinity unlocks insights that fuel research, refine trial design, and accelerate the development of life-changing treatments. It’s not just data, it’s a discovery engine built from the real world.
From data to discovery: How we power Infinity
Data is collected
Each new test adds genomic, phenotypic, clinical, and demographic detail to Infinity, enriched by EHR/HIE inputs, curated literature, and external reference sources.
Data becomes insight
Our team of 100+ MD and PhDs and 150+ board-certified genetic counselors interpret this data with context and care—transforming millions of data points into actionable insights you can trust.
Insight drives impact
Teams like yours use these insights to deliver faster, more confident diagnoses today, while also fueling research and drug discovery that will change outcomes for patients tomorrow.
How data helps with diagnosis and drug discovery
Unified data
2.5 million+
50%
More than just a data set
Infinity is shaped by the data of real people and real cases and it’s changing what’s possible in rare disease care. It helps us see more clearly, diagnose more confidently, and discover insights that lead to better answers for more families.
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The right data changes everything
With Infinity, you’re not just accelerating discovery, you’re helping families find answers faster and shaping the future of rare disease care.