Company profile

Sema4

Precision Medicine & Genomics

Company profile

About Sema4

GeneDx, operating under the Sema4 brand, is a leading precision medicine and genomics company specializing in advanced genetic testing for rare and inherited diseases. The company provides comprehensive genomic testing solutions including whole exome sequencing (ExomeDx™), whole genome sequencing (GenomeDx™), rapid and ultrarapid testing, and targeted panels. Recognized as the #1 genetic test by pediatric and genetic specialists, 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™. The company serves multiple stakeholders including healthcare providers, patients and families, health systems, and biopharma companies. GeneDx's testing covers a wide range of conditions including neurodevelopmental disorders, epilepsy, autism spectrum disorder, cerebral palsy, congenital heart disease, global developmental delay, intellectual disability, inborn errors of immunity, and neonatal/pediatric critical care. The company's diagnostic approach analyzes approximately 20,000 genes and delivers diagnostic yields 17% greater than standard testing, with results available within days or weeks. GeneDx is an in-network provider for 79% of commercially insured patients across the U.S. and offers Medicaid coverage in 36 states, along with a Financial Assistance Program to reduce out-of-pocket costs. The company's GeneDx Infinity™ dataset, comprising 2.5+ million genetic tests and 8 million phenotypic data points, fuels AI-driven insights and enables precision medicine approaches for both clinical diagnosis and drug discovery.

Company description Sema4 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
  • Neurodevelopmental disorders

Who it serves

  • Biopharma companies
  • Clinicians
  • Health systems
  • Healthcare providers
  • Patients and families

Deployment & integration

Cloud Saas deployment with recorded integration context.

Recorded integration context: Epic Aura.

Geographic context

MarketsUnited States
Company sourceOfficial website

Company milestones

Platform expansion

Discovery of 230 new genes linked to autism; AAP recommendation for exome and genome sequencing for global developmental delay and intellectual disability; 2.5+ million genetic tests performed including nearly 1 million exomes and genomes

Partnerships

Recorded partners

No partners are currently listed.

02 · Flagship portfolio

Products, workflows, and platform capabilities

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

ExomeDx

Whole exome sequencing for rare disease diagnosis

Software · Cloud SaaSCompany source

GeneDx Infinity

The largest rare disease dataset powering precision medicine

Platform · Cloud SaaSCompany source

GenomeDx

Whole genome sequencing for comprehensive rare disease diagnosis

Software · Cloud SaaSCompany source

Prenatal Testing

Genetic testing for prenatal diagnosis

Software · Cloud SaaSCompany source

Rapid and UltraRapid Sequencing

Accelerated genomic sequencing for critical care settings

Software · Cloud SaaSCompany source

Targeted Testing Panels

Focused genetic testing for specific conditions

Software · Cloud SaaSCompany source

Trio Testing

Family-based genetic testing for improved diagnostic accuracy

Software · Cloud SaaSCompany source

03 · Research intelligence

Research Intelligence evidence

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

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 than standard testing

Compared to standard genetic testing approaches

60% experience change in medical management

Individuals receiving a diagnosis from genomic sequencing

Results within days or weeks

Turnaround time for genetic testing results

75,000+ clinicians

Advanced genomic testing for rare disease diagnosis

Trusted by over 75,000 clinicians; recognized as #1 genetic test by pediatric and genetic specialists

Adult epilepsy patient

Genetic insights for adult epilepsy diagnosis

Genetic clarity provided for adult epilepsy management

Autism research cohort

Discovery of new genes linked to autism

230 new genes linked to autism identified

Cerebral palsy patient

Genetic testing to enable personalized care for cerebral palsy

Personalized care enabled through genetic testing

Epilepsy patient

Diagnosis of genetic cause of infant seizures

Successful genetic diagnosis from infant seizures to treatment

Genomic sequencing patients

Clinical management changes following genetic diagnosis

60% of individuals receiving diagnosis experience change in medical management

NICU families

Early detection and diagnosis in neonatal intensive care settings

Early detection enabling early action for NICU families

Rare disease patient

Ending years-long diagnostic odyssey

Diagnosis achieved in two weeks after years-long odyssey

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 Sema4

Recent articles published on Sema4'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.

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10 · Pro research

Coming soon

Expanded Company research is in development.

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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.

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