Rare Disease Targeted Sequencing

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.

Recent Genetic & Rare Disease Articles

Addressing the genomics education gap

With limited space in the curricula for genomics, residents and physicians are turning to other sources for training

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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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Three moms move mountains to help kids with rare disorders

Their patient-led consortium is creating a free and open database for neurodevelopmental chromosomal disorder research

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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.

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

Rare Disease Targeted Sequencing

Whole-exome sequencing for rare diseases