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Rare Disease Targeted Sequencing

Gene panels for rare disease

A focused method for testing known disease genes

Benefits of Targeted Sequencing for Rare Diseases

Targeted sequencing can provide the researcher a focused set of genes to investigate when a specific condition or disease state is suspected. The investigator can identify regions of interest and select panels to interrogate known disease-causing genes appropriate to the phenotype. With both research use only (RUO) tools and an IVD solution for clinical use, options are plentiful for further targeted analysis.

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

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Comprehensive Sequencing of Disease-Related Genes

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.

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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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Recent Genetic & Rare Disease Articles

Coordinating Research and Efforts in China’s Rare Disease Community
Coordinating Research and Efforts in China’s Rare Disease Community

Illumina supports the release of a landmark consensus on whole-genome sequencing in the diagnosis of genetic diseases in newborns

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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.

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Kansas City Lights the Night with a New Research Institute
Kansas City Lights the Night with a New Research Institute

Genomic sequencing is giving families hope in the face of uncertainty at Children’s Mercy Hospital in Kansas City

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Related Solutions

Illumina DNA Prep with Enrichment

This assay forms the foundation of the sequencing technology behind our gene panels. It features our fastest and most flexible targeted sequencing technology.

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.

References
  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