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| Variant Type | Definition | WES | WGS |
|---|---|---|---|
| Single nucleotide variants (SNVs) | A DNA sequence variant affecting 1 nucleotide | All protein-coding | All |
| Insertion / Deletion (Indels) | Deletions, insertions, or duplications of DNA segments less than 500bp | All protein-coding | All |
| Copy number variants (CNVs) | Deletions or duplications of DNA segments of at least 500bp | Limited | All |
| Structural variants (SVs) | Insertions of DNA segments of at least 500bp, inversions and translocations (including translocations between nDNA and mtDNA) | Limited | All |
| Repeat expansions | Increase in the number of repeated DNA sequence motifs within a gene | No | Most |
| Chromosomal abnormalities | Monosomy, trisomy, uniparental disomy, triploidy | All | All |
Re-evaluation: As scientific knowledge advances, new disease-causing variants are discovered. At Arcensus, we re-evaluate all myLifeExome and myLifeGenome data twice within 12 months after the initial analysis. By conducting repeated analysis, we enhance the likelihood of identifying clinically significant variants and the root cause of genetic diseases.
1st Analysis
TAT: 20 working days
2nd Analysis
within 6 months
3rd Analysis
within 12 months
Re-classification: When any reported variant is re-classified, all impacted patients receive an updated report.