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 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.

Explore genetics services

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 for global developmental delay or intellectual disability.

Explore pediatric genetic testing

Maternal-Fetal medicine

From CMA to exome and genome testing, we deliver answers with
the largest rare disease and prenatal exome dataset.

Explore maternal fetal medicine

Genetic tests for providers

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

Whole exome sequencing

Analyze the protein-coding regions of the genome to identify variants associated with rare and inherited conditions. Proband-only, duo, and trio testing options are available based on your patient's needs.

Learn about exome sequencing

Whole genome sequencing

Analyze both coding and noncoding regions of the genome to uncover genetic variants that may be missed by more targeted approaches. Standard, rapid, and ultra-rapid testing options are available for a range of clinical scenarios.

Learn about genome sequencing

Targeted variant testing

Confirm or evaluate a known genetic variant in a patient or family member. Ideal for follow-up testing when a disease-causing variant has already been identified.

Learn about targeted variant testing

View all genetic tests

Browse the complete GeneDx test catalog to explore our full portfolio of genetic tests and find the right test for your patient.

Browse the test catalog

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.