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.
- Complex phenotypes with multiple differential diagnoses
- Genetically heterogeneous disorders
- Suspected genetic disorders where a specific genetic test is not available
- Inconclusive previous genetic testing
Blueprint Genetics’ comprehensive diagnostic service offers a faster path to informed decisions on medical management and improved patient outcomes:
We accept blood, salvia, and isolated DNA samples. Simplified test requisition through secure portal, Nucleus, or by paper.
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.
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.