Whole Genome Sequencing (WGS Solo)

Whole Genome Sequencing (WGS Solo)

3B-GENOME | 3billion

Advanced Whole Genome Sequencing (WGS) for rare and inherited disease diagnosis, covering coding and non-coding regions of the genome and detecting multiple genetic variant types, including structural variants (SV) and mitochondrial DNA (mtDNA) variants.

🧬 Technical Specifications

🔄 Continuous Genetic Reanalysis

• Automatic weekly reanalysis of negative & inconclusive cases till diagnosis is found.
• No additional cost, included in the 3B-GENOME service, subject to 3billion's service terms.
• Notifications to the clinical data submitter when new clinically significant findings are identified.
• 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 WGS 3billion assay can detect variants at a level of 1% or more , which may increase the chances of detecting disease-associated variants and reduce false negatives resulting from the failure to detect low-variance variants.

🔬 When to Consider WGS

• Broader Variant Detection: Covers multiple variant types, including structural variants (SV), SNVs, Indels, and CNVs.
• Non-Specific Clinical Symptoms: When a genetic disorder is suspected but cannot be clearly identified based on clinical presentation alone.
• Undiagnosed After WES: When WES does not identify a disease-causing variant, WGS may provide additional diagnostic insights.