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.
Types of Genetic Testing
Whole Genome Sequencing (WGS)
Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. Genomic information has been instrumental in identifying inherited disorders such as autoinflammatory diseases. Each organism has a unique DNA sequence which is composed of bases (A, T, C, and G). If the sequence of the bases in an organism are known, it is possible to identify its unique DNA fingerprint, or pattern. Determining the order of bases is called sequencing.
Comprehensive view of the genome (coding, non-coding and mtDNA)
Reliable and sensitive detection of all variant types (SNVs, Indels, SVs, CNVs)
Low cost, fast library preparation
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.
Exome sequencing using exome enrichment can efficiently identify coding variants across a broad range of applications, including population genetics, genetic disease, and cancer studies.
Targeted view of the protein-coding regions of the genome
Reliable and sensitive detection of coding variants (SNVs, Indels)
Fast and cost-effective 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.