Rare Disease Targeted Sequencing

Whole-exome sequencing for rare diseases

Efficiently test known disease-causing genes

Benefits of targeted sequencing for rare diseases

Whole-exome Sequencing (WES) is a targeted sequencing approach for comprehensive NGS analysis, enabling labs to focus resources on genes likely to be associated with the phenotype. WES targets protein-coding regions, which comprise less than 2% of the genome but contain ~85% of known disease variants. By producing a manageable data set, WES allows for focused analysis and competency building.

Implementation of WES in labs can provide a broad view of coding variants, enhance data management with scalable interpretation, and enable greater opportunities for re-analysis or discovery than chromosomal microarrays or gene panels alone. By using a whole-exome backbone, labs can deliver diverse and comprehensive virtual panels that simplify workflows, while being able to decrease sequencing costs and allow the execution of immediate reflex analyses.

Illumina IVD solutions for clinical use

Whole-exome solutions

Explore comprehensive workflow solutions for whole-exome sequencing including world-class support from Illumina.​

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Related Solutions

Illumina DNA Prep with Exome 2.0 Plus Enrichment

A high-performance, fast, and complete whole-exome sequencing kit including library prep and hybridization reagents, a comprehensive exome probe panel, clean up/size selection beads, and indexes.

Illumina DRAGEN Bio-IT Platform

The Illumina DRAGEN Bio-IT Platform provides accurate, comprehensive, and efficient analysis of next-generation sequencing data.

NextSeq 2000 System

This sequencer introduces over 75 breakthrough innovations to deliver a faster, more intuitive experience in next-generation sequencing.

WGS for rare disease

While targeted sequencing can identify important genomic insights, whole-genome sequencing (WGS) is the most comprehensive assay for rare disease genomics.

Recent genetic & rare disease articles

What the diagnostic odyssey looks like—and how we can end it
What the diagnostic odyssey looks like—and how we can end it

Closing the knowledge gap for health care providers and accelerating access to whole-genome sequencing

Using NGS to Study Rare Undiagnosed Genetic Disease
Using NGS to study rare undiagnosed genetic disease

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

Bridging the diagnosis gap for Canada’s Indigenous children
Bridging the diagnosis gap for Canada’s Indigenous children

The Silent Genomes Project is building a first-of-its-kind variant library for First Nations, Inuit, and Métis populations

Gaining insight into genetic disease

Dr. Kenjiro Kosaki furthers his clinical research and expands the genetic analysis services he provides with the TruSight One Sequencing Panel. Learn why he thinks genomic technology will drastically change how we assess patients suffering from undiagnosed disorders.

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Dr. Kenjiro Kosaki

Targeted Sequencing Panels for Rare Diseases

Cystic Fibrosis testing (For IVD-Use)

The TruSight Cystic Fibrosis 139-Variant Assay is an FDA-cleared, CE-IVD-marked NGS test designed to detect 139 CFTR variants as defined in the CFTR2 database. Other methods test only for those variants most commonly found in Caucasians, potentially missing CF-causing variants across broader ethnic groups. The assay offers the largest CF variant panel to overcome this bias and provide comprehensive detection across diverse demographics.1

TruSight One Sequencing Panel

The TruSight One Sequencing Panel provides comprehensive coverage of > 4800 disease-associated genes, while the TruSight One Expanded Sequencing Panel targets ~1900 additional genes with recent disease associations in the scientific literature.

Precision health

Personalized medicine programs can help match patients to treatments, reduce disease burden, increase survival rates, and reduce the cost of care.

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precision health
  1. Hughes EE, Stevens CF, Saavedra-Matiz CA, et al. Clinical sensitivity of cystic fibrosis mutation panels in a diverse population. Hum Mutat. 2016;37(2):201-208. doi:10.1002/humu.22927