Empower your rare disease research

Rare and Undiagnosed Disease Research

Next-generation sequencing (NGS) technology can be used for rare and undiagnosed disease research to discover causative variants of inherited disorders by assessing many genes at the same time. Using NGS can reduce costs compared to traditional methods, which are often expensive and inconclusive while requiring extensive testing.

genetic health rare and undiagnosed disease
Improve detection
  • Advanced technology offers more sensitive and accurate detection capabilities than traditional methods
Cost-effective solution
  • High-throughput capabilities reduce per sample cost and can cover larger gene sets to eliminate the need for multiple tests
Streamlined workflow
  • Use of pre-designed, expert-selected content and proven Illumina NGS technology increases productivity and decreases overhead
Accurate results
  • Deep uniform coverage enables highly accurate variant calling suitable for the genomics research laboratory

Of those, 80% have a genetic etiology, which may be uncovered with NGS and the TruSight One targeted panel.1-2 TruSight One is a targeted gene panel that uses NGS to simultaneously analyze up to 4813 genes associated with rare diseases.

Gaining Insight Into Genetic Disease

Learn how Dr. Kenjiro Kosaki furthers his clinical research with Illumina sequencing.

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The Sequencing Advantage

Learn how the NextSeq 550 System is enhancing research in genetic health and why it’s being rapidly adopted in genetic testing labs. Get a glimpse into the advantages of this integrated, cost-effective solution for diverse applications, including rare disease research.

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Sequencing Advantage Video

From library prep, arrays, and sequencing to informatics, Illumina next-generation solutions empower researchers and clinicians across the globe to find the answers they seek in rare disease research.

We’re here with all the resources you need to accelerate progress. In addition to onsite training, ongoing support, and phone consults, we offer webinars and courses around the world.

world-class solutions and a community of support

Illumina offers cost-effective, streamlined, targeted NGS solutions that can empower your research into specific rare and undiagnosed diseases.

NextSeq 550 System
NextSeq 550

Perform NGS and cytogenomic array scanning all on one system.

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TruSight One Sequencing Panels
TruSight One Sequencing Panel

Comprehensive panels targeting disease-associated regions of the exome with high analytical sensitivity and specificity.

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Identifying Causal Variants of Inherited Disease in Newborns: Dr Stephen Kingsmore

Learn how Dr Stephen Kingsmore aided in decoding the genomes of children being seen at Children’s Mercy Hospital.

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Rapid Whole-Genome Sequencing in Neonatal Intensive Care Units

Whole-genome sequencing can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.

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Identifying Causal Variants of Cardiomyopathy: Dr Heidi Rehm

Hear from Dr Heidi Rehm and learn how she is identifying the causal variants of cardiomyopathy.

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Medical Genetics Education

Find educational resources about medical genetics and learn how genomic information can be used in clinical practice.

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  1. National Institutes of Health. “Rare Diseases Clinical Research Network Fact Sheet.”
  2. The Global Genes Project. “RARE Diseases: Facts and Statistics.”