What is genetic testing?

Genetic testing analyzes DNA to help identify genetic changes that may contribute to rare and inherited conditions. Results can help guide diagnosis, care decisions, and treatment planning for patients and families.

How does genetic testing work?

Genetic testing typically starts with a blood sample or cheek swab collected by a healthcare provider or through an at-home collection kit. Samples are analyzed in a laboratory, and results are reviewed by clinical experts to help guide next steps in care.

What conditions can genetic testing help diagnose?

Genetic testing can help diagnose a wide range of rare and inherited conditions, including developmental delay, intellectual disability, epilepsy, autism spectrum disorder, congenital anomalies, neurologic conditions, and other complex genetic disorders.

What are the benefits of exome and genome sequencing?

Exome and genome sequencing provide broad genetic analysis that can help uncover causes of rare and inherited conditions that may be missed by more targeted testing approaches. These tests may support earlier diagnosis, more informed care decisions, and improved treatment planning.

Does insurance cover genetic testing?

Many insurance plans, including commercial insurance, Medicaid, Medicare, and Tricare, may cover genetic testing when it is considered medically necessary. Coverage requirements vary by plan and clinical situation. GeneDx works with ordering providers to support insurance authorization and reimbursement processes when applicable.

When is genetic testing recommended?

Genetic testing may be recommended when a patient has symptoms or medical findings that suggest a possible genetic condition. Exome and genome sequencing are increasingly recommended as first-line tests for many children with developmental delay, intellectual disability, autism, epilepsy, congenital anomalies, and other suspected rare diseases.

How do I get genetic testing?

Genetic testing is typically ordered by a healthcare provider based on medical history, symptoms, and clinical presentation. Patients and families can explore testing options and next steps on the Patients page, while healthcare providers can browse tests and ordering information on the How to Order page.

Recommended as first-line genetic testing by ACMG, AAP & NSGC

Advancing rare disease diagnosis through genomic insights

Preferred by more than 75,000 clinicians and recognized as the #1 genetic test by pediatric and genetic specialists.

GeneDx helps providers, patients, and partners find earlier answers through advanced genetic testing, expert clinical interpretation, and the world's largest rare disease dataset.

Get started

Contact our team

Browse tests

Who we serve

Providers

Deliver earlier, more accurate diagnoses with advanced genetic testing and expert clinical support for rare and inherited conditions.

Patients & families

Find clearer answers and guidance through genetic testing designed to help diagnose rare and inherited conditions.

Health systems

Integrated genetic testing solutions for hospitals, health systems, and care networks.

Biopharma

Accelerate research, therapeutic discovery, and clinical development with genomic insights powered by rare disease data.

2.5 million genetic tests and counting

Leaders in genetic testing for rare disease

With more than 25 years of experience and over 1 million exomes and genomes sequenced, GeneDx combines advanced genomic testing, expert clinical interpretation, and the world’s largest rare disease dataset to help deliver clearer answers for rare and inherited conditions.

Our platform supports earlier diagnoses, more informed care decisions, and ongoing discovery in genomic medicine.

See the GeneDx difference

Learn about GeneDx Infinity™

25+

Years advancing rare disease diagnostics

2.5M+

Genetic tests and counting

1M+

Exomes and genomes sequenced

Recommended as
first-line genetic testing

Genetic testing is recommended as a first-line test for many children with global developmental delay and 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 services

Explore GeneDx's genetic testing services for 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

Targeted varaint 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

When every moment matters

The average rare disease diagnosis takes 5 years and 40% of patients with a rare disease have been misdiagnosed, delaying optimal care and early intervention therapies, adding emotional strain, and increasing the economic burden to families.

Real families, real answers 

Discover how earlier genetic diagnosis has helped families find answers, guide care, and change lives. 

Meet Rosie

"Getting those testing results changed our lives in ways we’ll never know" —Rosie's mother

Smiling young child with light hair wearing a purple shirt leaning on a red surface indoors.

Meet Carlotta

“My advice to parents would be to try to get that information and push for exome sequencing as early as possible because the more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”—Andrea, Carlotta's mother

Meet William

William missed some early motor milestones, experienced speech delays and stiff muscles, and exhibited behaviors consistent with autism. Ordering exome sequencing as a first-line genetic test could have uncovered answers within weeks. But because William’s doctors waited for signs and symptoms, it took over 7 years—and the onset of seizures—to receive a definitive diagnosis.^†

Meet Savannah

“There was an ounce of relief in [getting the diagnosis], because we had been waiting for answers and now we had them. We now had some sort of direction, too.” — Emily, Savannah's mother

‍

Smiling family of four in white clothes on a beach with ocean waves in the background.

Meet Ben

“I would never wish those seven years I spent searching for a diagnosis on anyone. The sense of relief I finally got from finally getting a diagnosis was overwhelming. We found hope and a path forward.” —Ashley, Ben's mother

Young boy in an orange wheelchair holding a blue Christmas ornament near a decorated tree and presents.

Genetic testing solutions for  rare disease diagnosis

GeneDx provides comprehensive genetic testing—from whole exome and genoome sequencing to targeted testing—designed to deliver faster, more accurate diagnoses for rare and inheritedconditions.

Precise

Improve diagnostic accuracy with advanced genetic testing powered by one of the world’s largest rare disease datasets.

~20,000 genes analyzed
17% higher diagnostic yield than standard testing

Fast

Get answers sooner with streamlined testing and flexible sample collection options.

Results in days or weeks
At-home or in-clinic sample collection

Actionable

Make more informed care decisions with clear, clinically meaningful results.

Easy-to-understand reports
Access to genetic counseling support

GeneDx Infinity™:
The largest rare-disease data set

Our unmatched dataset fuels deeper insights and enables more accurate diagnoses combined with AI and clinical expertise. Powered by the most powerful genomic intelligence, including 2.5 million genetic tests nearly 1 million exomes and genomes, and 7 million phenotypic data points, GeneDx Infinity™ 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.

Trusted by

Ready to get started
with GeneDx?

Choose the path that's right for you. Whether you're ordering testing for a patient or exploring options for your family, we're here to help you get started.

Clinicians

Need help choosing a test or getting started with GeneDx?

Contact our team

View tests

Ready to order, but new to GeneDx?

Create an account

Families

Explore your genetic testing options including telehealth for GDD/ID, Epilepsy and Genetic Counseling services

Explore genetic testing options for families

Biopharma leaders

Interested in partnering with GeneDx to advance rare disease research and discovery?

Learn more

Common questions about genetic testing

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

See all FAQs

Advancing rare disease diagnosis through genomic insights

Clinical Areas | NICU

When Every Minute Matters

Prenatal Case Study | Jennifer

When Answers Matter Most

Testing Approach | Trio Testing

Why Trio Testing Matters

Prenatal Webinar | July 8 at 3 pm ET

Navigating Prenatal Genomic Testing