3billion
dna helix
Product
3B-EXOME
Whole exome sequencing-based genetic testing service

Whole exome sequencing,
the most efficient genetic testing

3B-EXOME detects most of the rare genetic diseases by covering the exome region. You can consider 3B-EXOME primarily when it is difficult to determine the cause of the patient's condition.

Test Specification

  • Platform
    illumina NovaSeq X
  • Mean depth of coverage
    ~100X
  • Mitochondrial genome coverage*
    ~100X
  • Read length
    150bp paired-end
  • Targeted regions covered at ≥ 20X
    ≥ 98%
  • Variant types
    SNV, INDEL, CNV**

    • * For the mitochondrial genome variants, the level of heteroplasmy that can be reported is ≥10%

    ** CNVs spanning at least three consecutive exons can be detected.

    See cases diagnosed with
    3B-EXOME

    You can consider 3B-EXOME in the following circumstances

    To conduct preliminary genetic testing
    The ACMG recommends children with developmental, cognitive, and intellectual disabilities take a WES-based genetic test as a first-line test.
    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 WES.
    Undiagnosed after multiple tests
    Even after numerous panel tests, a WES test should be considered if disease-causing variants are still not detected.
    One-stop test
    Instead of multiple single/panel tests, the patient and doctor should consider a test covering all genes.

    FAQs

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