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Precise, fast, actionable diagnoses through advanced
genetic testing

The #1 genomic test and the top choice of pediatric and genetic providers.1

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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.

Learn more about whole exome and whole genome sequencing.

Who we serve


Providers

Deliver personalized care through genomic insights.


Patients & families

Find answers and clarity through advanced genetic testing.


Health systems

Bring precision medicine to life across your entire network.


Biopharma

Accelerate discovery and clinical trials with deep genomic data.

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.

Learn more about GeneDx Infinity

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

Research | Autism

230 new genes linked to autism

This major discovery highlights the importance of genetic testing to identify co-occurring conditions.

Patient story | NICU

Early detection means early action for NICU families

Patient story | Epilepsy

From infant seizures to a genetic diagnosis

Research | Epilepsy

Genetic insights provide clarity for adult epilepsy

Patient story | Cereberal palsy

Personalised care begins with genetic testing

Education | Genomics

How exome and genome sequencing shape clinical care

This webinar covers test capabilities, limitations, reanalysis, and how sequencing informs diagnostic precision and patient care.

News | Pediatrics

AAP recommends exome and genome sequencing for global developmental delay and intellectual disability

Education | NICU

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.

Patient story | Rare disease

From a years-long odyssey to clarity in two weeks

Recommended for
first-line testing⁵

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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Common questions

Get answers to questions about genetic testing, its benefits, and more.

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Clinicians can prepare by identifying appropriate patients based on clinical presentation, reviewing current testing guidelines, and partnering with a laboratory experienced in rare and complex conditions. Understanding test selection, insurance considerations, and follow-up care pathways can help integrate genetic testing smoothly into routine practice. Learn more.

GeneDx provides genetic testing and genomic sequencing to help diagnose rare and complex conditions. Our testing supports patients with developmental delay, intellectual disability, epilepsy, autism spectrum disorder, congenital anomalies, and other inherited conditions across pediatric and adult populations.

Many conditions can have similar symptoms but different causes, some of which could be genetic. Exome and genome testing look at over 20,000 genes at once, which could improve the chances of finding an answer. Learn more.

When discussing genetic testing, clinicians can explain how testing may help uncover the cause of symptoms and inform care decisions. Setting clear expectations about possible results, timelines, and next steps can help patients and families feel informed and supported throughout the process. Learn more.