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.

The protein-coding regions of all ~20,000 genes in the human genome (exome) are sequenced using next-generation sequencing (NGS) technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-causing mutations are located therein.

WES is successful in the identification of new disease genes.

Our WES resembles whole genome sequencing as it targets most non-coding disease causing deep intronic variants.

WES maximizes diagnostic yield in various clinical indications. Definite diagnosis is typically obtained in 20–60% of cases.

WES improves sequencing depth and coverage, customization of content, clinical sensitivity for detecting indels and del/dups, and coverage in clinically relevant and challenging genes and areas (e.g. PKD1, RPGR (ORF15), and GBA).

Average sequencing depth

with guaranteed sequencing reads
174x
100M

Coverage

99.4% at
20x of bp
in coding regions

Detection of
deletions up to

 

and
insertions up to

220bp
221bp

Excelent sensitivity for detecting CNVs

Sensitivity
99.7%

and

Specifivity
>99.99%

for SNV detection …

99.7%

and

>99.99%

for indel detection …

… 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