Whole Exome Sequencing (WES) is the most effective tool for diagnosing complicated and multi-system rare diseases. WES searches through all coding regions of currently identified genes, yielding a high chance of correctly diagnosing patients with a complex phenotype. Novogene offers comprehensive and cost-effective clinical exome solutions that meet the needs of patients and your business.
Novogene offers comprehensive clinical exome solutions:
- High-quality WES services, bioinformatic analysis, and interpretation.
- Fast turnaround time at a highly competitive price.
- Customized data file types and reports.
Why Partner with Us?
Explore Clinical Exome Solutions at Novogene
1. Human Whole Genome/Exome Sequencing/Target Region Sequencing
- Performed at Novogene CAP-accredited or CLIA-certified laboratories.
- Data quality with high on-target reads percentage and coverage uniformity.
- Fast Turnaround Time.
2. Bioinformatic Platform
- Knowledge-driven NGS analysis, interpretation, and reporting platform based on the GeneCards Suite Knowledgebase from >120 data sources and Novogene’s in-house database.
- Rapid diagnosis of causal mutations, and prioritization of variants based on their association with patients’ phenotypes.
- Evaluation of variants with respect to pathogenicity and causality, which are categorized according to ACMG guidelines.
- Report includes primary findings related to patients’ phenotypes, medical actionable secondary findings, as well as carrier status for autosomal recessive disorders.
- Clinical interpretation is provided following international best-practice guidelines.
|Sample Types:||Blood, Saliva, Buccal Swab, or DNA|
|Exome Capture:||Agilent SureSelect Human All Exon V6|
|Sequencing Platform:||Illumina NovaSeq 6000|
|Turnaround Time:||10 Working Days (from sample receival to FASTQ)|
CLIA-validated WES Performance Metrics
|Mean Sequencing Coverage||103X|
|Average Raw Data||13.75 G|
|Base Pairs Covered at ≥20X||≥94%|
|Repeatability||≥98% for SNVs
≥88% for InDels
|Sensitivity||≥98% for SNVs
≥90% for InDels
|Specificity||≥99% for SNVs
≥98% for InDels
|File/Report Types||Sequencing Only||Sequencing + Analysis||Sequencing + Analysis + Interpretation|
|Data QC Report||✔||✔||✔|
|Data releasing through AWS||Free Data Uploading Service|
Disclaimer: This test is not available in New York state.