Empower your rare disease research with genomics

Rare & Undiagnosed Disease Genomics

Next-generation sequencing (NGS) technology can be used in rare and undiagnosed disease research to discover causative genomic variants linked to inherited disorders. 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 NGS technology offers more sensitive and accurate detection capabilities than traditional methods
Cost-effective solution
  • High-throughput capabilities reduce per sample cost and can eliminate the need for multiple tests
Streamlined workflows
  • Use of proven Illumina NGS technology and simple workflows increases productivity and decreases overhead
Accurate results
  • Deep uniform coverage enables highly accurate variant calling suitable for genomics laboratories
Comprehensive Rare Variant Analysis

The TruSight Software Suite is designed to help high-throughput labs call, prioritize, and report on variants associated with rare disease—all from one software interface.

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Comprehensive Rare Variant Analysis
Rare Disease Genomics Studies Unlock the Molecular Mechanisms of Human Disease

Whole-exome and transcriptome sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.

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Of those, 80% have a genetic etiology, which may be uncovered with NGS solutions such as 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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Featured Rare Disease Genomics Stories

The Story of Tree Baby
The Story of Tree Baby

Read about one mother's quest for a diagnosis and how a mutation in her son's PDHX gene provided the answers she had been looking for.

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A Message of Hope for the Rare Disease Community
A Message of Hope for the Rare Disease Community

Illumina recognizes the added challenges and increased burden COVID-19 adds to the lives of the rare disease community.

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The Diagnostic Odyssey
The Diagnostic Odyssey

Families facing rare diseases can spend up to eight years pinpointing the problem in solitude – until now. See how hope and perserverence is uniting families.

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Shortening the Journey to Diagnosis

Whole genome sequencing may be the key to helping parents avoid months or years of inconclusive tests. Listen to experts from the Undiagnosed Diseases Network to learn more.

Listen to the Podcast

Illumina offers cost-effective, streamlined NGS solutions that can accelerate your research into 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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  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.