Illumina constellation technology identifies hard-to-detect genetic variants

Illumina Inc. (NASDAQ: ILMN) announced that GeneDx (NASDAQ: WGS) completed a pilot study of Illumina's constellation mapped read technology, which identified genetic variants in regions traditionally difficult to analyze with short-read sequencing methods.

GeneDx tested 160 DNA samples from individuals with known genetic diseases using NovaSeq X Plus Systems with constellation kits. The company compared results against established methods including long-read sequencing, arrays, and multiplex ligation-dependent probe amplification.

The constellation technology identified variants in several genes associated with rare diseases, including DMPK linked to myotonic dystrophy, SMN1 associated with spinal muscular atrophy, and NCF1 connected to chronic granulomatous disease. The technology also detected mosaic aneuploidy, a condition causing chromosomal abnormalities in some cells.

"The level of detail we can achieve with constellation provides promising insight into some of the world's most complex and difficult-to-diagnose diseases," said Joe Devaney, GeneDx's Director of Laboratory Innovation.

The constellation technology uses unfragmented DNA applied directly to flow cells for cluster generation, eliminating manual library preparation steps. Proprietary software extracts long-distance genomic data from neighboring clusters to resolve mapping challenges in repetitive genome regions.

Illumina first introduced constellation technology at the 2024 American Society for Human Genetics conference. The first commercial product based on constellation technology is scheduled for release in the first half of 2026, compatible with the NovaSeq X Series.

Devaney presented the study results at the American Society for Human Genetics Annual Meeting in Boston. The information is based on a company press release.

You May Also Be Interested In