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.

 

If you have any questions or concerns, you can visit our FAQ page or contact us.

Blueprint Genetics offers four types of high-quality Whole Exome Sequencing tests

Whole Exome

Whole Exome includes high-quality Whole Exome sequence analysis of single patient cases.

Whole Exome is particularly useful for patients suffering from complex genetic disorders where selecting an optimal diagnostic panel is difficult, a panel is not available, or where previous genetic testing has been negative.

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Whole Exome Family

Whole Exome Family includes high-quality Whole Exome sequence analysis of an index patient and parents (trio) or other family members.

Trio approach in WES improves diagnostic rate by facilitating sequence variant analysis and by enabling detection of de novo mutations, which underlie many of the severe early-onset diseases.

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Whole Exome Plus

Whole Exome Plus includes high-quality Whole Exome sequence analysis of single patient cases, coupled with Whole Exome Deletion/
Duplication analysis. Deletion/Duplication analysis enables detection of copy-number variants.

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Whole Exome Family Plus

Whole Exome Family Plus includes high-quality Whole Exome sequence analysis of an index patient and parents (trio) or other family members, coupled with Whole Exome Deletion/Duplication analysis of the index patient. Whole Exome Family Plus is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases.

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Whole Exome Sequencing provides an effective discovery approach to diagnostics of genetic disorders across various medical specialties.