Whole Exome Sequencing
Whole exome sequencing (WES) is one of the most comprehensive and robust genetic tests to identify the disease-causing changes in a large variety of genetic disorders.
In WES, protein-coding regions of all genes (~20,000) of the human genome, i.e. exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-causing mutations are located there. Indeed, WES is a powerful method to identify the molecular basis of genetic disorders across various medical specialties.
The diagnostic yield of WES is higher than some traditional gene diagnostic methods. A definite diagnosis is typically obtained in 20-60% of cases, depending on the medical specialty, with severe, early-onset disorders having the highest diagnostic rates. The chance of identifying the cause of the disorder is maximized when WES is performed for both the index patient and parents or other first-degree family members.
WES is most suitable for individuals with
- a complex, unspecific genetic disorder with multiple differential diagnoses.
- a genetically heterogeneous disorder.
- a suspected genetic disorder where a specific genetic test is not available.
- unsuccessful previous genetic testing.
Blueprint Genetics Whole Exome tests have been developed to maximize diagnostic yields, first of all, by generating high-quality and uniform sequencing data. The sequencing data are analyzed for single-nucleotide and indel variants using an in-house, state-of-the art bioinformatics pipeline. Furthermore, the genetic information of patients is carefully interpreted by our team of geneticists and clinicians, utilizing information from latest publications and up-to-date databases.