How do I get genetic testing?

Genetic testing is typically ordered by a healthcare provider based on a patient’s symptoms and medical history. Providers can explore available tests and ordering options through GeneDx, while patients and families can learn how to get started and what to expect during the process.

What does GeneDx test for?

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.

Who should consider genetic testing for rare disease?

Genetic testing may be appropriate for individuals with unexplained developmental delays, intellectual disability, epilepsy, congenital anomalies, or other suspected genetic conditions. Healthcare providers can determine when testing is appropriate based on clinical presentation.

What are the benefits of exome and genome sequencing?

Whole exome and genome sequencing analyze thousands of genes at once, increasing the likelihood of identifying the underlying cause of a condition. These tests can help deliver faster, more accurate diagnoses and inform medical management and care decisions.

How can clinicians order genetic testing?

Clinicians can order genetic testing through GeneDx by selecting the appropriate test and submitting a requisition form. Our team provides support throughout the ordering process, including test selection, specimen requirements, and result interpretation.

Advanced
genetic testing for rare disease diagnosis

Trusted by over 75,000 clinicians to deliver faster, more accurate diagnoses through advanced genetic testing.

Recognized as the #1 genetic test by pediatric and genetic specialists.

Contact our team

Browse tests

2.5 million tests and counting²

Rare is everywhere

GeneDx has performed over 2.5 million genetic tests, including nearly 1 million exomes and genomes sequenced. This has created one of the largest rare disease datasets in the world.
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Deliver faster, more accurate diagnoses for rare and inherited conditions with advanced genetic testing.

Learn more about whole exome sequencing and whole genome sequencing.

Who we serve

Providers

Deliver earlier diagnoses 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 sequencing and whole 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 8 million phenotypic data points,² GeneDx Infinity^TM 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.