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Genetic Testing – WGS & WES

Autoinflammatory diseases are caused by defects in genes that regulate innate immunity. Genetic testing can greatly assist clinicians with diagnosis and selection of an appropriate treatment. Testing is recommended for patients with a clinical suspicion of an autoinflammatory syndrome. If genetic testing is not available, clinical manifestations should guide the diagnosis and treatment.

Types of Genetic Testing

Whole Genome Sequencing (WGS)

Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. 

  • Comprehensive view of the genome (coding, non-coding and mtDNA)

  • Reliable and sensitive detection of all variant types (SNVs, Indels, SVs, CNVs)

  • Higher cost

Whole Exome Sequencing (WES)

Whole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome. The human exome represents less than 2% of the genome but contains ~85% of known disease-related variants, making this method a cost-effective alternative to whole-genome sequencing.

  • Targeted view of the protein-coding regions of the genome

  • Reliable and sensitive detection of coding variants (SNVs, Indels)

  • More cost-effective sequencing

Panel Sequencing

Targeted gene sequencing panels are useful tools for analyzing specific mutations in a given sample. Focused panels contain a select set of genes or gene regions that have known or suspected associations with the disease or phenotype. Gene panels can be purchased with preselected content or custom designed to include genomic regions of interest. Autoinflammatory panels are available.


Laboratories offering genetic testing: Invitae (USA), Veritas (Global), Blueprint Genetics (USA), Fulgent (USA), etc.

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