Rare Disease Targeted Sequencing

Gene panels for rare disease

A focused method for testing known disease genes

Illumina IVD solutions for clinical use

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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Dr. Kenjiro Kosaki

Recent Genetic & Rare Disease Articles

Addressing the Shortage of Genetic Counselors with Software
Addressing the Shortage of Genetic Counselors with Software

Igentify’s digital genetic engine can help people screen for hundreds of autosomal recessive disorders

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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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Greenwood Genetic Center: Answering the Unanswered
Greenwood Genetic Center: Answering the Unanswered

Using whole-genome sequencing, a forward-looking organization is helping diagnose rare genetic diseases faster for more patients

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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.

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
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