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Product
3B-GENOME
Whole genome sequencing-based genetic testing service

The most extensive genetic test to cover whole genome

3B-GENOME detects and interprets variants based on Whole Genome Sequencing (WGS), a test technique that covers the entire human genome.

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.
Structural Variation (SV) covered
WGS tests detect Structural Variations (SV), including a single exon CNV or balanced chromosomal arrangement.
Mitochondrial DNA (mtDNA) covered
WGS tests detect pathogenic variants in mtDNA having higher depth-of-coverage than WES.

Test Specification

  • Platform
    illumina NovaSeq X
  • Mean depth of coverage
    ~30X
  • Mitochondrial genome coverage*
    1000X
  • Read length
    150bp paired-end
  • Genome covered at 20x
    ≥ 95%**
  • Variant types
    SNV, INDEL, SV (including CNV)

    • * For the mitochondrial genome variants, the level of heteroplasmy that can be reported is ≥1%

    ** Calculation based on autosomal chromosomes

    See cases diagnosed with
    3B-GENOME

    You can consider 3B-GENOME in the following circumstances

    To examine all variants with a single test
    A single test can cover all variants, including Structural Variants.
    Showing non-specific symptoms
    When the doctor suspects a genetic disease but the disease cannot only be diagnosed with the patient’s phenotypes, the patient/doctor can consider a WGS.
    Undiagnosed after a WES test
    Even after a WES-based genetic test, if disease-causing variants are still not detected, a WGS test should be considered.

    FAQs

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