Sema4

Sema4

Precision Medicine & Genomics

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.

Clinical Focus

Medical conditions and clinical areas addressed by Sema4.

Autism spectrum disorderCerebral palsyCongenital heart diseaseEpilepsyGlobal developmental delayIntellectual disabilityInborn errors of immunityNeurodevelopmental disordersNeonatal and pediatric critical careMovement disordersMetabolic conditionsCardiac conditionsCongenital anomalies

Who It Serves

Healthcare providersCliniciansHealth systemsBiopharma companiesPatients and families

Milestones & Awards

Recent 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

Awards & Recognition

Recognized as the #1 genetic test by pediatric and genetic specialists

Company Details

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Official Sources

Last updated Jul 1, 2026

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