3B-GENOME
Molecular Diagnostic Tests
Information
3B-GENOME detects and interprets variants based on Whole Genome Sequencing (WGS), a test technique that covers the entire human genome.
1. High diagnostic rate: WGS tests have the highest diagnostic rate among all the other genetic tests, and WGS tests have approximately 7-8% higher diagnostic rates than WES tests.
2. Structural Variation (SV) covered:WGS tests detect Structural Variations (SV), including a single exon CNV or balanced chromosomal arrangement.
3. Mitochondrial DNA (mtDNA) covered: WGS tests detect pathogenic variants in mtDNA having higher depth-of-coverage than WES.