GeneDx Plans To Enhance Its Genome Testing Portfolio With Long-Read Whole Genome Sequencing

Long-read sequencing analyzes longer stretches of DNA to identify complex genetic variation, including certain structural variants and repeat expansions that can go undetected by traditional short-read sequencing. With years of published research1 and collaborations with leading technology partners, GeneDx is uniquely positioned to bring long-read sequencing into clinical practice, combining advanced sequencing of genomic data, rich phenotypic data, and deep clinical expertise to deliver meaningful answers for patients.

Leveraging insights from GeneDx Infinity™ and decades of clinical interpretation, GeneDx will identify where long-read sequencing can deliver the greatest diagnostic value and offer lrWGS upfront for eligible patients. This targeted, phenotype-driven approach aims to reduce sequential testing, close diagnostic gaps and accelerate diagnosis.

The early access program will be available by year-end and is part of GeneDx's continued focus on genome innovation to expand diagnostic capabilities and deliver more answers to more patients.