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 diseases can be detected through genetic testing?

Genetic testing can help diagnose the genetic causes of many rare and inherited diseases and conditions, including neurodevelopmental disorders, epilepsy, movement disorders, metabolic conditions, cardiac conditions, developmental delay, intellectual disability, and other complex or unexplained symptoms. GeneDx specializes in whole exome sequencing and whole genome sequencing to help clinicians find answers for patients with suspected genetic conditions.

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.

GeneDx Enterprise™

Run genomic interpretation in your own lab

Analyze, interpret, and report genomic data with AI-powered software‍

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Raw data in, genomic answers out. GeneDx Enterprise™ combines cloud-native AI software with deep genomic expertise to support fast, confident diagnostics at scale. Turn complex sequencing data into clear, clinically relevant insights for diagnostic laboratories, health systems, and national genomics programs.

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Designed for genomic programs at every scale

GeneDx Enterprise™ is built for organizations delivering genomic insights.

Commercial laboratories*
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Bring advanced genomic interpretation into your laboratory while keeping sequencing and patient relationships under your control.

*Available for non-US based labs

Health systems & hospitals 
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Enable hospital laboratories to deliver genomic testing internally with scalable interpretation workflows and configurable reporting.

National genomics programs
 

Standardize interpretation across thousands of genomes with transparent AI and configurable workflows.

Software first. Expert support when needed.

Start with the GeneDx Enterprise™ platform and extend your team with GeneDx expertise as your needs evolve. From targeted interpretation support to full clinical reporting, you can tailor the model to your workflow, capacity, and program goals.

Core offering

Enterprise Software

Cloud-based genomic interpretation software for organizations building in-house capabilities.

Service add-ons

+ Interpretation

Extend your laboratory with GeneDx experts for variant interpretation and reporting support.

Includes: Software + expert interpretation

CLIA CERTIFIED & CAP ACCREDITED LAB

Service add-ons

+ Clinical

Extend your laboratory with GeneDx experts for variant interpretation and final report sign-out.

Includes: Software + expert interpretation + final report sign-out

CLIA CERTIFIED & CAP ACCREDITED LAB

Your own variant database in your own workspace

Build a private variant database within your workspace, or import an existing one to interpret against, all layered alongside GeneDx Infinity™ and other public sources used to inform interpretation.

Learn more about GeneDx Infinity™

Run interpretation entirely within your own laboratory

Upload sequencing data, review prioritized variants, generate reports, and manage approvals using your own clinical team and workflows.

Long read & short read

Analyze data from both sequencing approaches

Sequencer-agnostic

Designed to work across sequencing technologies

VCF inputs

Start from raw reads or called variants

Report & sign-out in platform

Complete the full window without leaving the GeneDx Enterprise

LIMS & API integration

Fits into your existing lab infrastructure

Everything your clinical team needs

Configure review workflows, user permissions, reporting templates, and approval processes to match the way your organization operates.

AI-guided prioritization

Automatically prioritizes disease-causing genes using genomic, phenotypic, and clinical evidence.

Case management

Organize cases, assign reviewers, collaborate across teams, and track progress from upload through approval.

Flexible reporting

Generate customizable clinical reports with configurable templates and laboratory-specific workflows.

Multiple workflows

Support whole genomes, exomes, panels, solos, duos, trios, family analysis, and reanalysis - all within a single platform.

Intelligence built on millions of genomic insights

Our advanced AI analyzes genomic, phenotypic, and clinical evidence simultaneously to prioritize likely disease-causing genes and conditions, reducing manual review while keeping every recommendation transparent for expert review.

92%

92% causal gene ranked in the top 2¹

95%

95% causal gene ranked in the top 5¹

~97%

~97% causal gene ranked in the top 10¹

>95% sensitivity for SNVs and CNVs in genome sequencing rare disease cases.²^†

Fast, accurate results for any clinical NGS test

Turnkey to deploy and built to scale, from a single laboratory to a national program.

Clinical programs

Rare & Undiagnosed Disease‍
Hereditary Disease
Screening

Supported workflows

Genome Sequencing
Exome Sequencing
Gene Panels
Solo, Duo, Trio Quad, Quintent, Analysis
Re-analysis
Rapid Workflows

Built to protect patient data at every step

GeneDx Enterprise is designed to support the security and privacy requirements of organizations working with sensitive genomic and clinical information.

Encryption throughout
Data is protected end to end across storage to transfer‍
Isolated workspaces
Your data and variant knowledge remain separated and under your control
Role-based access controls
Granular permissions govern who can view and act on each case
Secure cloud infrastructure
Enterprise provides a secure cloud-based environment for genomic analysis and clinical workflows

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.

Bring scalable genomic analysis to your program

Ready to bring scalable genomic analysis to your lab, hospital, or national genomics program? Our team will walk you through the platform.

Request a demo

Contact our team

Run genomic interpretation in your own lab

Designed for genomic programs at every scale

Commercial laboratories*‍

Health systems & hospitals ‍

National genomics programs

Software first. Expert support when needed.

Enterprise Software

+ Interpretation

+ Clinical

Run interpretation entirely within your own laboratory

Long read & short read

Sequencer-agnostic

VCF inputs

Report & sign-out in platform

LIMS & API integration

Everything your clinical team needs

AI-guided prioritization

Case management

Flexible reporting

Multiple workflows

Intelligence built on millions of genomic insights

Fast, accurate results for any clinical NGS test

Clinical programs

Supported workflows

Built to protect patient data at every step

Genetic testing solutions for rare disease diagnosis

Precise

Fast

Actionable

GeneDx Infinity™: The largest rare-disease data set

Diagnosis is power

Bring scalable genomic analysis to your program

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Commercial laboratories*
‍

Health systems & hospitals 
‍

National genomics programs
 

Genetic testing solutions for  rare disease diagnosis

GeneDx Infinity™:
The largest rare-disease data set