Company profile

GeneDx AI

Precision Medicine & Genomics

Company profile

About GeneDx AI

GeneDx is a leading provider of advanced genetic testing and genomic sequencing for rare and complex disease diagnosis. The company specializes in whole exome sequencing (ExomeDx™) and whole genome sequencing (GenomeDx™), offering comprehensive analysis across approximately 20,000 genes to help clinicians deliver faster, more accurate diagnoses for patients with suspected genetic conditions. GeneDx has performed over 2.5 million genetic tests, including nearly 1 million exomes and genomes sequenced, creating one of the largest rare disease datasets in the world—GeneDx Infinity™. This dataset, combined with 8 million phenotypic data points, fuels deeper diagnostic insights and enables precision medicine. The company serves multiple stakeholders including healthcare providers, patients and families, health systems, and biopharma companies. GeneDx's testing portfolio addresses a wide range of conditions including neurodevelopmental disorders, epilepsy, autism spectrum disorder, cerebral palsy, congenital heart disease, global developmental delay, intellectual disability, and neonatal/pediatric critical care conditions. The company offers rapid and ultra-rapid testing options, with results available within days or weeks, and accepts simple cheek swabs for most tests with at-home sample collection available. GeneDx is recognized as the #1 genetic test by pediatric and genetic specialists, with diagnostic yield 17% greater than standard testing. The company is an in-network provider for 79% of commercially insured patients across the U.S., with Medicaid coverage available in 36 states, and offers a Financial Assistance Program to reduce out-of-pocket costs. GeneDx integrates with Epic Aura EHR systems and provides comprehensive support including genetic counseling, clearly written reports, and educational resources for clinicians and families.

Company description GeneDx AI official website

Primary marketPrecision Medicine & Genomics
Commercial modelCommercial information available on request
Company presenceOfficial website
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01 · Operating footprint

Where the Company operates

Company-profile context for clinical focus, customers, deployment, integration, milestones, and partnerships.

Clinical focus

  • Autism spectrum disorder
  • Cardiac conditions
  • Cerebral palsy
  • Congenital anomalies
  • Congenital heart disease
  • Epilepsy
  • Global developmental delay
  • Inborn errors of immunity
  • Intellectual disability
  • Metabolic conditions
  • Movement disorders
  • Neonatal and pediatric critical care conditions
  • Neurodevelopmental disorders
  • Rare diseases

Who it serves

  • Biopharma companies
  • Clinicians
  • General pediatricians
  • Genetic counselors
  • Geneticists
  • Health systems
  • Healthcare providers
  • Maternal-Fetal medicine specialists
  • Patients and families
  • Pediatric neurologists

Deployment & integration

Api Only · Cloud Saas deployment with recorded integration context.

Recorded integration context: Epic Aura.

Geographic context

MarketsInternational (testing available outside US) · United States
Company sourceOfficial website

Company milestones

Platform expansion

230 new genes linked to autism discovered; AAP recommends exome and genome sequencing for global developmental delay and intellectual disability; over 2.5 million genetic tests performed

Partnerships

Recorded partners

  • Epic (EHR integration)
  • Genome Medical (telehealth genetic services partner)

02 · Flagship portfolio

Products, workflows, and platform capabilities

Selected source-backed Company products and the available commercial context.

Epic Aura Integration

EHR integration enabling seamless ordering and results delivery within Epic

Api · Api OnlyCompany source

ExomeDx

Whole exome sequencing analyzing ~20,000 genes for rare disease diagnosis

Software · Cloud SaaSCompany source

GeneDx Infinity

The largest rare disease dataset powering AI-driven genomic insights and drug discovery

Platform · Cloud SaaSCompany source

GenomeDx

Whole genome sequencing for comprehensive rare disease diagnosis

Software · Cloud SaaSCompany source

Prenatal Testing

Prenatal genetic testing for fetal anomalies and inherited conditions

Software · Cloud SaaSCompany source

Rapid and UltraRapid Sequencing

Fast genomic sequencing delivering results within days for critical care

Software · Cloud SaaSCompany source

Trio Testing

Family-based testing analyzing patient and both parents to improve diagnostic yield

Software · Cloud SaaSCompany source

03 · Research intelligence

Research Intelligence evidence

Publications, preprints, clinical validation, and regulatory records in Evidence Position order.

Evidence position

Publications, clinical validation, and regulatory records connected to this Company appear here.

Research

Publications & preprints

No linked records are currently available.

Clinical validation

Clinical-trial records

No linked records are currently available.

Regulatory

Regulatory records

No linked records are currently available.

04 · Company-reported outcomes

Outcomes and case studies

Company-reported outcomes and customer stories are distinct from linked Research Intelligence evidence.

17% greater diagnostic yield

compared to standard testing

60% experience change in medical management

individuals receiving genomic sequencing diagnosis

2x more likely to lead to diagnosis

exome testing vs chromosomal microarray

23% additional diagnoses

exome sequencing finds diagnoses that multi-gene panels miss

75,000+ Clinicians

Trusted by over 75,000 clinicians for rare disease diagnosis across multiple specialties

Recognized as #1 genetic test by pediatric and genetic specialists

Autism Research Discovery

Research study identifying genetic causes of autism spectrum disorder

230 new genes linked to autism discovered, highlighting importance of genetic testing for co-occurring conditions

Carlotta's Family

Pediatric patient with unexplained neurological symptoms received exome sequencing to identify underlying genetic cause

Early genetic diagnosis enabled more informed care planning and long-term outcome improvements

Estella's Family

8-month-old infant diagnosed with alternating hemiplegia of childhood through genetic testing

Genetic diagnosis provided answers, hope, and potential for future treatment options

Jennifer's Prenatal Case

Prenatal testing for fetal hydrops and bilateral clubfoot detected at anatomy ultrasound

Genetic testing provided diagnostic clarity for pregnancy management decisions

Maria's Prenatal Case

Prenatal testing for cystic hygroma and single umbilical artery with history of previous affected pregnancy

Comprehensive genetic testing identified underlying cause and informed family planning

Sarah - Congenital Heart Disease

Pediatric patient with congenital heart disease diagnosed after routine pediatrician visit

Genetic diagnosis received after genetics evaluation, enabling personalized cardiac care

Violet - NICU Case

NICU patient who received less comprehensive genetic testing prenatally and postnatally

Case demonstrates value of ordering genome sequencing first for faster diagnosis

05 · Leadership

Leadership team

Leadership profiles and professional links from the current Company record.

No active leadership profiles are currently listed.

06 · Company updates

Updates from GeneDx AI

Recent articles published on GeneDx AI's official website.

07 · HAIC coverage

Coverage and analysis

Health AI Central reporting that mentions this Company.

No HAIC coverage is currently linked to this Company.

08 · Official presence

Company sources and channels

Curated official destinations from the active Company record.

09 · Market pathway

Additional Companies in this Market

Other active Companies in the same market, selected alphabetically from the HAIC directory.

Market context

Precision Medicine & Genomics

Companies using AI to analyze genomic, proteomic, metabolomic, or multi-omics data to provide personalized treatment recommendations, identify genetic risks, or develop targeted therapies. Includes genomic sequencing platforms with AI analysis, preventive medicine based on genetic risk assessment, and longevity care based on molecular and genetic data.

Explore the full market directory or compare this Company with additional active profiles.

View all Companies in this market

10 · Pro research

Coming soon

Expanded Company research is in development.

Health AI Central Pro · Coming Soon

Deeper Company research is coming soon.

Pro Research will introduce expanded technical context, linked evidence analysis, and comparative Company research.

ResearchEvidence analysis

Linked research, clinical, and regulatory source pathways.

CompanyTechnical context

Expanded product, deployment, integration, and partnership research.

MethodSource & review record

Record-level provenance and review context.

Coming Soon