On October 15, 2025, GeneDx announced a pilot program of Illumina’s Constellation mapped‑read technology, a new sequencing approach that can resolve genomic regions that traditional short‑read methods cannot.
The pilot used GeneDx’s NovaSeq X Plus systems with Constellation kits to evaluate 160 DNA samples from individuals with known genetic disease. The results showed Constellation accurately identified repeat expansions, complex structural variants, and elusive regions that traditional short‑read methods miss.
This pilot demonstrates GeneDx’s commitment to expanding its diagnostic capabilities and could enhance its exome and genome testing accuracy, potentially increasing diagnostic yield and strengthening its competitive position in rare‑disease diagnostics.
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