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.
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.Learn More
Whole-exome and transcriptome sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.Learn More
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.
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.Read Article
Illumina recognizes the added challenges and increased burden COVID-19 adds to the lives of the rare disease community.Read More
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.Read Article
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.
Perform NGS and cytogenomic array scanning all on one instrument with the NextSeq 550 System.
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
Phosphorus uses the DRAGEN Bio-IT Platform to perform genomics data analysis onsite and at an accessible price point.Read Article