3billion
dna helix
Product
3B-EXOME
Whole exome sequencing-based genetic testing service
What makes 3B-EXOME different?

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.

UPDATED

What is the
Family Insight Test?

A premium WGS solution for families facing reproductive challenges or inherited risks.
We uncover hidden genetic causes to guide accurate diagnosis and future clinical management.

Who should consider this test?

Reproductive Loss

Uncover the hidden genetic "WHY" behind recurrent miscarriages or fetal death.

Genetic Legacy

Assess inherited risks proactively to guide informed future family planning.

Alternative Path

Provide definitive answers even when testing the affected family member is not possible.

Consanguinity

Deliver clinical clarity for individuals from high-risk consanguineous families.

Family Insight TestReview the reporting criteria and ordering process.

Download Sample Report →Order Guide →

This test is a specialized test for high-risk clinical cases.
It is NOT intended for general population carrier screening.

One Test.
Continuous Reanalysis.

New research and diagnostic advances can unlock answers.With 3billion, automatic reanalysis is included—no additional cost.

Weekly Automatic Reanalysis*
Runs continuously without manual request. Covers negative and inconclusive results.
No Additional Cost
Fully included your 3B-EXOME service—no hidden fees or extra charges.
Latest DB & AI Integration
Leverages growing disease & variant databases and continuously improving interpretation algorithms.
Notification on New Findings
Receive alerts when reanalysis identifies clinically significant results.

3billion has been providing reanalysis for 5 years.** Check out the cases diagnosed with reanalysis.

View Cases →

* Available only for cases with reanalysis consent provided during 3billion portal ordering.

** 3B-EXOME

Test Specification

  • Platform
    illumina NovaSeq X
  • Mean depth of coverage
    ~100X
  • Mitochondrial genome coverage*
    ~2000X
  • 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 ≥5%

    ** 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

    See more FAQs

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