Overview
GeneDx provides comprehensive genetic testing including whole exome sequencing, whole genome sequencing, and targeted panels for diagnosing rare and complex conditions in pediatric and adult populations. For biopharma, GeneDx offers GeneDx Infinity™, a genomic data platform with the largest rare disease dataset, over 2.5M genetic tests, 1M+ exomes and genomes, and deep phenotypic data linked to claims for real-world evidence. This supports drug discovery, development, and patient journey analysis in life sciences and pharma.
Frequently asked questions
- What genetic testing capabilities does GeneDx offer for rare disease diagnosis?
- GeneDx offers whole exome sequencing (WES), whole genome sequencing (WGS), and targeted panels to identify variants in rare and complex conditions like developmental delay, epilepsy, autism, and congenital anomalies across pediatric and adult patients.
- What is GeneDx Infinity™ and how does it support biopharma R&D?
- GeneDx Infinity™ is the largest rare disease genomic dataset with ~2.5M genetic tests, 1M+ exomes/genomes sequenced, 8M+ structured phenotypic data points, and claims data, enabling longitudinal patient journey analysis for drug discovery and real-world evidence.
- What are GeneDx's regulatory and clinical expertise highlights?
- GeneDx has 25+ years in rare-disease diagnostics, powers clinical genomic testing with industry-leading WES/WGS, and collaborates on advanced technologies like Illumina's constellation mapped reads and PacBio long-read sequencing for improved variant detection.