ExomeDx
Whole exome sequencing for rare disease diagnosis
Company profile
Company profile
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
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01 · Operating footprint
Company-profile context for clinical focus, customers, deployment, integration, milestones, and partnerships.
Cloud Saas deployment with recorded integration context.
Recorded integration context: Epic Aura.
Company milestones
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
No partners are currently listed.
02 · Flagship portfolio
Selected source-backed Company products and the available commercial context.
Whole exome sequencing for rare disease diagnosis
The largest rare disease dataset powering precision medicine
Whole genome sequencing for comprehensive rare disease diagnosis
Genetic testing for prenatal diagnosis
Accelerated genomic sequencing for critical care settings
Focused genetic testing for specific conditions
Family-based genetic testing for improved diagnostic accuracy
03 · Research intelligence
Publications, preprints, clinical validation, and regulatory records in Evidence Position order.
Publications, clinical validation, and regulatory records connected to this Company appear here.
Research
JCO clinical cancer informatics · Apr 1, 2025
Heparin treatment is associated with a delayed diagnosis of Alzheimer's dementia in electronic health records from two large United States health systems.Molecular psychiatry · Apr 1, 2025
NF2 mutation associated with accelerated time to recurrence for older patients with atypical meningiomas.British journal of neurosurgery · Apr 1, 2025
Integrated transcriptomic analysis of human induced pluripotent stem cell-derived osteogenic differentiation reveals a regulatory role of KLF16.bioRxiv : the preprint server for biology · Jan 27, 2025
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.Blood cancer discovery · Nov 1, 2024
CriteriaMapper: establishing the automatic identification of clinical trial cohorts from electronic health records by matching normalized eligibility criteria and patient clinical characteristics.Scientific reports · Oct 25, 2024
Clinical validation
No linked records are currently available.
Regulatory
No linked records are currently available.
04 · Company-reported outcomes
Company-reported outcomes and customer stories are distinct from linked Research Intelligence evidence.
Compared to standard genetic testing approaches
Individuals receiving a diagnosis from genomic sequencing
Turnaround time for genetic testing results
Advanced genomic testing for rare disease diagnosis
Trusted by over 75,000 clinicians; recognized as #1 genetic test by pediatric and genetic specialists
Genetic insights for adult epilepsy diagnosis
Genetic clarity provided for adult epilepsy management
Discovery of new genes linked to autism
230 new genes linked to autism identified
Genetic testing to enable personalized care for cerebral palsy
Personalized care enabled through genetic testing
Diagnosis of genetic cause of infant seizures
Successful genetic diagnosis from infant seizures to treatment
Clinical management changes following genetic diagnosis
60% of individuals receiving diagnosis experience change in medical management
Early detection and diagnosis in neonatal intensive care settings
Early detection enabling early action for NICU families
Ending years-long diagnostic odyssey
Diagnosis achieved in two weeks after years-long odyssey
05 · Leadership
Leadership profiles and professional links from the current Company record.
No active leadership profiles are currently listed.
06 · Company updates
Recent articles published on Sema4's official website.
07 · HAIC coverage
Health AI Central reporting that mentions this Company.
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08 · Official presence
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09 · Market pathway
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Market context
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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