Whole Exome Sequencing

Blueprint Genetics offers high-quality Whole Exome Sequencing tests

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

Multiple improvements to standard WES analyses to ensure higher standards in quality and performance.

Major clinical utility: maximized diagnostic yield in patients with rare diseases.

Best-in-class WES diagnostic tool: mean sequencing coverage 174x, and ≥99.4% of base pairs (bp) covered at ≥20x.

Comprehensive, transparent and traceable analytic validation.

Improved coverage of challenging genes (e.g. PKD1, RPGR [ORF 15], GBA) and identification of 1,501 clinically relevant non-coding variants.

Comprehensive and high quality interpretation by rare disease expert team of PhD geneticists, certified geneticists and clinical consultants.

Comprehensive and customer friendly reports.

Who benefits from WES?
WES is most suitable for individuals with:
  • Complex phenotypes with multiple differential diagnoses
  • Genetically heterogeneous disorders
  • Suspected genetic disorders where a specific genetic test is not available
  • Inconclusive previous genetic testing
Avarage sequencing depth
174x
Coverage of selected intronic variants
>30x
Detection of deletions up to
220bp
and Insertions up to
221bp
Coverage
99.4%
of bp in coding regions
Sensitivity
Specifity
99.7%
>99.99%
for SNV detection
97.0%
>99.99%
for indel detection (1-50bps)
within coding regions of genes and selected intronic variants

Blueprint Genetics’ comprehensive diagnostic service offers a faster path to informed decisions on medical management and improved patient outcomes:

1. Sample

We accept blood, salvia, and isolated DNA samples. Simplified test requisition through secure portal, Nucleus, or by paper.

2. Sequencing

High-quality exome capture technology and NGS methods to obtain deep and uniform clinical-grade WES data.

3. Analysis and interpretation

Proprietary automated bioinformatics processes to rapidly and reliably produce clinically relevant information from the sequencing data.

4. Clinical statement

A team of geneticists and specialized clinicians interpret the results utilizing information from latest publications and databases to produce a comprehensive clinical statement. Through our online portal, clinicians have full transparent access to their individual patients’ performance and quality data. Data return in various formats (BAM, FASTQ, and VCF) available for a fee upon request.

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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Maximized coverage of clinically relevant genes

Download the WES info sheet

Last modified: 03.23.2018