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.

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.

Advancing rare disease
diagnosis through
‍genetic testing

Q: 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.

Deliver earlier, more accurate rare disease diagnoses with exome sequencing, genome sequencing, trio testing, and expert clinical support.

#1 genetic test for
pediatric specialists

Expert clinical
interpretation

Simple ordering &
rapid testing

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Why providers choose GeneDx

GeneDx combines advanced genomic testing, expert clinical interpretation, and one of the world’s largest rare disease datasets to help providers deliver earlier, more accurate diagnoses for rare and inherited conditions.

Precise

One of the world’s largest rare disease datasets
Advanced genomic insights across exome and genome sequencing
Higher diagnostic yield compared to traditional testing approaches

Fast

Rapid and ultra-rapid testing options available
Streamlined ordering and sample collection workflows
Results designed to support timely clinical decision-making

Actionable

Expert clinical interpretation and support
Clear, clinically meaningful reports
Insights designed to help guide diagnosis, treatment, and ongoing care

25+ years advancing rare disease diagnostics.

See the GeneDx difference

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Earlier answers can change care decisions

Rare disease diagnosis is often delayed for years, which can postpone treatment, intervention, and access to appropriate care.

GeneDx helps healthcare providers identify rare and inherited conditions earlier through advanced genomic testing, expert interpretation, and clinically actionable insights.

Shorten the diagnostic odyssey
Support earlier intervention and care planning
Help guide treatment decisions and specialist referrals

Recommended as
first-line genetic testing

Genetic testing is recommended as a first-line test for many children with developmental delay, intellectual disability, epilepsy, congenital anomalies, and other rare and inherited conditions. 

Supported by leading medical organizations, including:

American Academy of Pediatrics (AAP)
American College of Medical Genetics and Genomics (ACMG)
National Society of Genetic Counselors (NSGC)

Covered by most major insurers, with Medicaid coverage in 38 states—helping make genetic testing more accessible for patients and families.

Genetic testing guidance by clinical specialty

Learn when exome and genome sequencing may be appropriate for developmental delay, autism, epilepsy, congenital anomalies, and other rare genetic conditions.

For geneticists and genetic counselors

Exome, genome, trio, and targeted testing options with expert interpretation support.

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For pediatric neurologists

Genetic testing for epilepsy, neurodevelopmental disorders, and complex neurologic presentations.

Explore pediatric neurology testing

For NICU clinicians

Rapid and ultra-rapid genome sequencing options for critically ill infants.

Explore NICU genetic testing

For general pediatrics

First-line genetic testing guidance for developmental delay, autism, epilepsy, and congenital anomalies.

Explore pediatric genetic testing

Learn about first-line genetic testing

Genetic testing services for providers

GeneDx offers advanced genetic testing services designed to support earlier, more accurate diagnosis of rare and inherited conditions.

Exome sequencing

Exome sequencing is comprehensive genetic testing that analyzes protein-coding regions of the genome to help identify genetic variants associated with rare and inherited conditions. Rapid exome sequencing options are available for time-sensitive clinical situations.

Learn about exome sequencing

Genome sequencing

Genome sequencing is broad genomic testing that analyzes both coding and noncoding regions to help uncover genetic causes of disease that may be missed by more targeted approaches. Rapid and ultra-rapid genome sequencing options are available for critically ill patients.

Learn about genome sequencing

Trio testing

Trio testing analyzes a patient alongside biological parents to help improve variant interpretation and increase diagnostic yield for complex or rare genetic conditions.

Learn about trio testing

Prenatal testing

From CMA to exome and genome testing, we deliver answers with the largest rare disease and prenatal exome dataset. Our suite of prenatal tests helps you uncover answers with precision and speed without needing to work with multiple labs or collect multiple samples.

Learn about prenatal testing

Ordering and support designed for providers

GeneDx supports healthcare providers throughout the testing process with streamlined ordering workflows, clinical support resources, and access to expert guidance. Whether you are ordering your first test or managing complex rare disease cases, our teams are here to help support clinical decision-making and patient care.