Whole Exome Sequencing Trio (WES Trio)
Whole Exome Analysis (WES Trio)
3B-EXOME | 3billion
Advanced genetic analysis to help diagnose genetic and rare diseases, including coding regions, known disease-causing variants in non-coding regions, and mitochondrial DNA (mtDNA) variants.
🧬 Technical Specifications
| Specification | the details |
| Gene sequencing platform | Illumina NovaSeq X |
| Average depth of coverage | ~100X |
| Coverage of targeted areas at ≥20X | ≥98% |
| mtDNA coverage | ~2000X |
| Heteroplasmy reporting level | ≥5% |
| Types of genetic variants | SNV / Indel / CNV |
| CNV detection range | At least 3 consecutive exons |
🔄 Ongoing genetic re-analysis
- Weekly and automatic reanalysis of cases with negative or inconclusive results.
- Free for life according to the 3billion Terms of Service, until a diagnosis is reached.
- Notify the physician or the person responsible for entering clinical data when new findings of clinical significance are discovered.
- Advanced sensitivity for detecting mitochondrial DNA (mtDNA) variants: While some genetic laboratories adopt a reporting threshold for variants at a heteroplasmy level of 15% or more, the WES 3billion assay can detect variants at a level of 5% or more , which may increase the chances of detecting disease-associated variants and reduce the likelihood of false negatives resulting from the failure to detect low-variance variants.
SKU
3b_WES_Trio