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
Learn MoreComprehensive 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.
Learn MoreInherited Disease Gene Sequencing
TruSight Inherited Disease was developed in collaboration with Dr. Stephen Kingsmore during his tenure at Children's Mercy Hospital (CMH) for Pediatric Genomic Medicine, Dr. Carol Saunders at CMH, and Dr. Hilger Ropers at the Max Planck Institute. The panel includes 552 genes focused on severe, recessive childhood diseases and intellectual disability.
Learn MoreNeurological Disease Gene Sequencing
The TruSeq Neurodegeneration Panel covers 118 risk genes associated with common neurodegenerative diseases, including Alzheimer’s disease, Parkinson's disease, and others. Leading researchers in the neuroscience community contributed their expertise to the design and development of this sequencing panel.
Learn MoreGaining 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
Calling for Policies to Support the Rare Disease Community in NZ
Health advocates highlight the urgent need to address challenges faced by people living with a rare disease
Read Article
Using NGS to Study Rare Undiagnosed Genetic Disease
Whole-exome and transcriptome sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.
Read Interview
Illuminating Rare Disease
Bringing to light the challenges and hopes for the rare disease community
Read ArticleRelated 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
- 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