2.5 million tests and counting2
Rare is everywhere
Nearly 1 million exomes and genomes sequenced and more than 25 years of rare-disease expertise. GeneDx has diagnosed more rare diseases than any other clinical laboratory worldwide—delivering clarity and hope to families seeking answers.
How can we help?
When every moment matters
The average rare disease diagnosis takes 5 years3 and 43% of patients with a rare disease have been misdiagnosed,3 which can delay optimal care and early intervention therapies,4 adding emotional strain, and increasing the economic burden to families.
The GeneDx difference
GeneDx offers comprehensive genetic testing from whole exome and genome sequencing to targeted panels, delivering rapid, precise answers for rare and complex conditions.
Precise
- The largest rare disease dataset
- Unmatched insights across ~20,000 genes
- Diagnostic yield 17% greater than standard testing5
Fast
- Results within days or weeks
- Simple cheek swab accepted for most tests
- At-home sample collection available
Actionable
- Industry-leading classification guides action
- Clearly written report with genetic counselors available
- 60% of individuals that receive a diagnosis from genomic sequencing experience a change in medical management6
GeneDx Infinity™:
The largest rare disease dataset
Our unmatched dataset fuels deeper insights and enables more accurate diagnoses combined with AI and clinical expertise. It draws on 2.5+ million genetic tests, nearly 1 million exomes and genomes, and 7 million phenotypic data points,2 GeneDx InfinityTM grows every day, fueling the discovery of new treatments and enabling precision medicine.
Diagnosis is power
For children with undiagnosed rare diseases, childhood isn’t carefree. Answers provide clarity. And clarity provides understanding and hope for brighter tomorrows.
Featured use cases
230 new genes linked to autism
This major discovery highlights the importance of genetic testing to identify co-occurring conditions.
Early detection means early action for NICU families
From infant seizures to a genetic diagnosis
Genetic insights provide clarity for adult epilepsy
Personalised care begins with genetic testing
How exome and genome sequencing shape clinical care
This webinar covers test capabilities, limitations, reanalysis, and how sequencing informs diagnostic precision and patient care.
AAP recommends exome and genome sequencing for global developmental delay and intellectual disability
Advancing neonatal care with rapid genome sequencing
Watch our webinar to learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.
From a years-long odyssey to clarity in two weeks
Recommended for
first-line testing⁵
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GeneDx is an in-network provider for 79% of commercially insured patients across the U.S.7, and Medicaid coverage is available in 36 states*. Our Financial Assistance Program can also help reduce out-of-pocket costs.
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