- TruPath™ Genome delivers a more complete genome, with the simplest sample-to-sequencer workflow
- Data Presented at AGBT Demonstrates Accuracy of TruPath Genome in Detecting Rare Genetic Diseases
- Broad Clinical Labs is an early adopter of a product previously known as “constellation mapped reading technology.”
SAN DIEGO, February 25, 2026 /PRNewswire/ — Illumina, Inc. (NASDAQ: ILMN) today announced the launch of TruPath™ Genome, setting a new standard for high-quality, comprehensive whole-genome information on genetic diseases. TruPath Genome has been shown to provide unparalleled accuracy and resolution, even in “dark regions” of the genome, providing researchers with a more complete picture of the genomic alterations involved in genetic diseases.
With an incredibly simple workflow, TruPath Genome eliminates traditional library preparation. In about 10 minutes of hands-on time, TruPath Genome generates 16 entire genomes per day, nearly double the throughput of competing long-read methods, and with fewer errors.
TruPath Genome leverages novel flow cell library preparation with structured flow cell technology and advanced computing to seamlessly add long-range information for comprehensive variant detection. DRAGEN™ algorithms optimized to integrate proximity information from TruPath Flow Cells improve read alignment and variant calling, extending Illumina’s high-quality reads to hard-to-map regions, variant phasing, structural variants, short tandem repeats (STRs), and clinically relevant paralogous genes. TruPath Genome fully phases up to 98% of genes.
“With TruPath Genome, we are pushing the boundaries of genomics and setting a new standard for genetics and rare disease research,” said Steve Barnard, PhD, Illumina Chief Technology Officer. “In the case of a rare disease, you are often looking for a needle in a genomic haystack variant, and completeness, precision and confidence are important. This technology paves the way for rapid answers to shed light on the genomic drivers of genetic diseases with an ease never thought possible.”
TruPath Genome offers a highly cost-effective whole-genome workflow, with industry-standard depth of at least 30x coverage with single-use flow cells, which is essential in clinical research.
Data presented at AGBT illustrates short-read path to long-range vision
Data presented today at AGBT and previous ones publications illustrates how TruPath Genome is already shedding light on some of the most challenging genetic diseases, including spinal muscular atrophy, kidney disease and complex adrenal disorders.
- Researchers at University Medical Center Utrecht presented data evaluating TruPath Genome in challenging rare disease samples, with a particular focus on the long-term phasing performance required to support non-invasive prenatal diagnostic (NIPD) testing, as well as the resolution of challenging genomic regions and complex structural variants.
“TruPath Genome allowed us to consolidate multiple analyzes into a single, easy-to-implement whole-genome test,” said Marcel Nelen, PhD, head of the Genome Diagnostics Laboratory at UMC Utrecht. “Despite the simplicity of the workflow, we achieved megabase-scale phasing, full resolution of clinically relevant genes, and better interpretation of difficult regions – even a particularly difficult case in the notoriously complex SMN1/SMN2 region – as well as complex structural variants. This represents an important step toward a single test capable of answering many rare disease research questions without additional orthogonal testing.
- At the recent Festival of Genomics & Biodata in London, researchers from University of Exeter shared data from their TruPath Genome pilot, which found that the technology resolved highly complex genomic regions, including a gene known to be associated with inherited adrenal disorders. While current short-read WGS requires parental samples to identify compound heterozygotes, TruPath Genome provides a single-sample path to this information, improving coverage of samples processed without parental data.
“TruPath Genome opens up a future in which every patient affected by a rare genetic disease can receive comprehensive, rapid whole-genome testing to end diagnostic odysseys and identify possible precision treatments,” said Emma Baple, PhD, professor of genomic medicine at the University of Exeter and medical lead for NHS England’s rapid genome sequencing service for seriously ill children. “At Exeter, we have had the privilege of evaluating TruPath technology and seeing its potential to change the lives of affected children and their families. We look forward to seeing how this innovation evolves, as these types of solutions will transform the way rare diseases are diagnosed.
Broad Clinical Labs is an early adopter of TruPath Genome, which will make this important technology available to its collaborators in rare disease research.
“TruPath means a more complete genome to drive our research,” said Sean Hofherr, PhD., FACMG, head of clinical strategy and product development at Broad Clinical Labs. “This technology offers an impressive ability to interrogate even the most difficult variants of the genome, all in an incredibly simple workflow. And being able to run it on the NovaSeq X Plus is appealing.
More than 30 early access customers have tested the technology over the past 16 months, including GeneDx, Rady Children’s Hospital and Baylor College of Medicine. Baylor College of Medicine recently published a preprint on the technology in medRxiv.
“We remain committed to advancing the accessibility of genomics through continued innovation, providing streamlined end-to-end workflows and comprehensive genomic information to tackle the most challenging rare genetic diseases,” said Jenny Zheng, Senior Vice President and General Manager of Greater China at Illumina. “In Greater China, we will deepen our collaboration with clinical and research experts to accelerate the transformation of cutting-edge technologies from research to clinical practice, ensuring that our innovations truly reach patients. On Rare Disease Day, we are ready to illuminate the path forward for more families navigating the diagnosis odyssey.
The TruPath Genome launch was revealed today during the Gold Sponsor Workshop at the Advances in Genome Biology and Technology (AGBT) Annual Meeting in Orlando. Register here for rebroadcast.
TruPath Genome was previously called “constellation mapped reading technology.” Learn more about the TruPath genome here.
* TruPath Genome has a list price of US$395 (excluding duties and shipping), including all consumables and assays.
Use of forward-looking statements
This release may contain forward-looking statements that involve risks and uncertainties. Important factors that our business is subject to that could cause actual results to differ materially from those indicated in the forward-looking statements include: (i) challenges inherent in developing and launching new products and services, including changing and scaling manufacturing operations, and reliance on third-party suppliers for critical components; (ii) our ability to manufacture robust instruments and consumables and develop reliable software solutions; and (iii) customer acceptance and adoption of our newly launched or updated products, which may or may not meet our and their expectations, as well as other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are pre-published. We undertake no obligation and do not intend to update these forward-looking statements, revise or confirm analyst expectations, or provide interim reports or updates on progress in the current quarter.
About Illumina
Illumina improves human health by unlocking the power of the genome. Our focus on innovation has allowed us to become a global leader in DNA sequencing and array-based technologies, serving our customers in the research, clinical and applied markets. Our products are used for applications in life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit lumina.com and connect with us on X, Facebook, LinkedIn, Instagram, TikTokAnd YouTube.
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