GeneDx Expands Diagnostic Leadership with Long-Read Genome Sequencing, Advancing Rare Disease Diagnosis

GeneDx announced plans to add long-read whole genome sequencing to its genome testing portfolio, targeting complex genetic variants such as structural variants and repeat expansions that short-read sequencing can miss. The company says an early access program will be available by year-end and will use a phenotype-driven approach to offer lrWGS upfront for eligible patients, aiming to reduce sequential testing and accelerate rare disease diagnosis.

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