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.

Medical Genome Initiative

This consortium of leading institutions is working to expand access to clinical whole genome sequencing (cWGS) for the diagnosis of rare genetic diseases.

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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

Featured Rare Disease Research Stories

Progress for Patients with Rare and Undiagnosed Genetic Diseases
Progress for Patients with Rare and Undiagnosed Genetic Diseases

The Blue Cross Blue Shield Association (BCBSA) technology review organization, known as Evidence Street®, issues review supporting whole-genome sequencing.

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NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease

Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.

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Every Diagnosis Matters
Every Diagnosis Matters

Families facing rare diseases often spend years pinpointing the problem in solitude – until now.

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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

Perform NGS and cytogenomic array scanning all on one instrument with the NextSeq 550 System.

TruSight One Sequencing Panel

TruSight One Sequencing Panels target disease-associated regions of the exome with high analytical sensitivity and specificity.


The Illumina DRAGEN Bio-IT Platform facilitates rare disease research by enabling accurate, ultra-rapid secondary analysis of whole-genome and whole-exome sequencing data.3,4

Bringing Bioinformatics Pipeline In-House Reduces Costs and Decreases Turnaround Time

Phosphorus uses the DRAGEN Bio-IT Platform to perform genomics data analysis onsite and at an accessible price point.

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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.”
  3. Bio IT World. Children’s Hospital Of Philadelphia, Edico Set World Record For Secondary Analysis Speed. October 23, 2017. www.bio-itworld.com/2017/10/23/childrens-hospital-of-philadelphia-edico-set-world-record-for-secondary-analysis-speed.aspx. Accessed September 19, 2018.
  4. The San Diego Union Tribune. Rady Children's Institute sets Guinness world record. February 12, 2018. www.sandiegouniontribune.com/news/health/sd-no-rady-record-20180209-story.html. Accessed September 19, 2018.