We added the mitochondrial genome analysis, additional noncoding deep intronic variants, and improved the performance of our Whole Exome Sequencing test.
Whole Exome products will not be visible to US or LATAM clients in Global Nucleus right away, due to product improvements including the addition of the whole mitochondrial genome and up to 2000 clinically relevant noncoding variants. We are currently working on making online ordering of Whole Exome tests available in our Global Nucleus for US or LATAM clients as soon as possible. In the meantime, you may order this improved WES using our Whole Exome paper requisition form.
Our WES analysis ensure high standards in quality and performance
- Major clinical utility, maximized diagnostic yield in patients with rare diseases
- High-quality WES diagnostic tool: mean sequencing coverage on average 154x at 100M sequencing reads, and on average ≥99.6% of base pairs (bp) covered at least 20x
- Sequencing of the mitochondrial genome (mtDNA): 9362x (mean) and 100% of base pairs (bp) covered at >1000x
- Comprehensive, transparent and traceable analytic validation
- Improved coverage of challenging genes (eg, PKD1, RPGR [ORF 15], GBA) and identification of almost 2000 clinically relevant noncoding variants
- Comprehensive and high-quality interpretation by rare disease expert team of PhD geneticists, certified geneticists and clinical consultants
- Comprehensive and customer-friendly reports
- Availability of the result within 6 weeks
- Optional analysis of ACMG secondary findings following the most recent guidelines (v3.1)
- This panel is designed to detect heritable germline mutations and should not be used for the detection of somatic mutations in tumor tissue
Read about our accreditations, certifications and CE-marked IVD medical devices here.
If you have any questions or concerns, you can visit our FAQ page, WES patient guide page or contact us.
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
Read more: WES Family Guide
1. Sample
We accept blood, saliva, and isolated DNA samples. Simplified test requisition through our secure portal, Nucleus, or by paper.
2. Sequencing
Our high-quality exome capture technology and NGS methods obtain deep and uniform clinical-grade WES data.
3. Analysis and interpretation
Our proprietary automated bioinformatics processes rapidly and reliably produce clinically relevant information from the sequencing data.
4. Clinical statement
A team of geneticists and specialized clinicians interprets 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 and VCF) available for a fee upon request.
Whole Exome
Whole Exome 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
Whole Exome Family 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. Deletion/Duplication analysis enables detection of copy-number variants. Whole Exome Family is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases.
We developed Nucleus to gain, share, and build life-changing genetic knowledge.