Illumina launches TruPath Genome sequencing technology

Illumina Inc. (NASDAQ: ILMN) announced the launch of TruPath Genome, a whole genome sequencing technology for genetic disease research. The company unveiled the product at the Advances in Genome Biology and Technology annual meeting in Orlando.

TruPath Genome eliminates traditional library preparation and generates 16 whole genomes per day with approximately 10 minutes of hands-on time. The technology uses on-flow cell library preparation with patterned flow cell technology and advanced informatics for variant detection.

The product carries a list price of $395 and includes all consumables and analysis at 30x coverage depth with single-use flow cell. TruPath Genome phases up to 98% of genes and uses DRAGEN algorithms for read alignment and variant calling.

"With TruPath Genome, we are pushing the boundaries of genomics and setting a new standard for genetic and rare disease research," said Steve Barnard, chief technology officer of Illumina. "In rare disease, you're often looking for a variant needle in a genomic haystack—and comprehensiveness, accuracy, and confidence matter."

Broad Clinical Labs is among the first organizations to adopt the technology. More than 30 early access customers have tested the product over the past 16 months, including GeneDx, Rady Children's Hospital, and Baylor College of Medicine.

Research data presented at the conference showed applications in spinal muscular atrophy, kidney disease, and complex adrenal disorders. University Medical Center Utrecht researchers evaluated the technology's performance in rare disease samples, while University of Exeter researchers tested it on complex genomic regions.

"TruPath Genome enabled us to consolidate multiple analyses into a single, easy‑to‑implement whole‑genome assay," said Marcel Nelen, head of the Genome Diagnostic Laboratory at UMC Utrecht.

The technology was previously known as "constellation mapped read technology." Illumina stated that TruPath Genome can run on the NovaSeq X Plus platform.

You May Also Be Interested In

• Freedom Broker Downgrades Illumina (ILMN) to Hold
• CVRx, Inc. (CVRX) Misses Q2 EPS by 1c
• Kodiak Gas Services, Inc. (KGS) Reports Q2 EPS of $0.55