Products and services
GeneDx offers genetic testing services with a primary focus on whole genome sequencing (WGS) and whole exome sequencing (WES). WGS provides a comprehensive analysis of an individual's entire genome, while WES focuses on protein-coding regions called exons, which contain a majority of known disease-related genetic variants. The company's tests are used in clinical diagnostics, research, and precision medicine by geneticists, genetic counselors, neonatologists, pediatric specialists, and pediatricians.
GeneDx offers testing for conditions including rare diseases, autism spectrum disorders, epilepsy, neurodevelopmental disorders, cardiomyopathies, and inherited conditions affecting vision, the immune system, muscles, hearing, metabolism, neurology, and mitochondrial diseases. GeneDx also offers rapid sequencing options intended for critically ill pediatric and neonatal patients where timely results may influence acute medical management. GeneDx continues to develop genetic testing technologies for clinical use in pediatric, adult, and newborn populations.
Professional guidelines from organizations such as the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) support the use of exome or genome sequencing as first-line or early diagnostic tests in selected patient populations.
GeneDx's biopharma business focuses on leveraging GeneDx Infinity to provide partners with access to molecularly confirmed genomic data, longitudinal patient information, and curated phenotypic data to support drug discovery, clinical development, real-world evidence generation and other therapeutic development needs. The company partners with biopharma and data companies to accelerate rare disease research and improve the efficiency and success rate of therapy development programs.
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Research Contributions
GeneDx researchers have contributed to peer-reviewed publications in major scientific and medical journals, generating data to expand access to genomic testing. In 2020, GeneDx researchers co-authored a study published in Nature analyzing data from 31,058 exome trios to identify 28 previously undescribed genes associated with developmental disorders, providing diagnoses for approximately 500 families. A 2021 study in JAMA, using data from GeneDx, found that exome sequencing identified pathogenic or likely pathogenic variants in 32.7% of pediatric patients with cerebral palsy, providing evidence to support genetic testing guidelines for the condition.
In 2025, GeneDx collaborated with Seattle Children's and the University of Washington on the SeqFirst research program, which produced two publications. The SeqFirst-Neo study, published in the American Journal of Human Genetics, found that applying broad exclusion criteria for rapid genome sequencing in NICUs increased the odds of a precise genetic diagnosis ninefold compared to conventional care, with 42% of diagnosed infants having been missed under standard protocols. A companion study published in The Journal of Pediatrics demonstrated that implementing rapid genome sequencing as a first-tier test in non-critical pediatric inpatient wards reduced the average time to a precise genetic diagnosis from 289 days to 13 days.
As of 2025, GeneDx has contributed to more than 1,100 peer-reviewed publications and contributes to more than 500 validated gene-disease associations through the GeneMatcher platform.
In 2026, GeneDx researchers published a validation study in Human Genetics describing Multiscore, an AI-powered gene prioritization tool, that combines machine learning with real-world clinical data from the GeneDx database alongside published literature and OMIM, correctly prioritized the causative gene within the top 10 candidates in 83.5% of cases, outperforming existing phenotype-based prioritization tools including Phrank and LIRICAL.
A 2026 real-world health economics analysis (SAVES-Kids), presented at the American College of Medical Genetics (ACMG) annual meeting, found GeneDx's exome and genome sequencing reduced total healthcare costs by up to 61% in the 12 months following testing for children with neurodevelopmental disorders. For children with epilepsy, that represents an average of approximately $80,000 per patient per year.
