Rare Disease Genetic Test

3billion offers quick, easy, and affordable diagnostic testing across all currently-known rare genetic diseases

3billion's buccal collection kit, 3billion portal page for physicians, and report
  • 7,000+Rare diseases
  • 20,000+Genes
  • Within6weeks

1 Test, 20,000+ Genes

Decoding the Diagnostic Odyssey

Rare genetic diseases are caused by variants within a gene. To maximize diagnostic yield, we find all possible DNA sequences of the human genome using what is called whole-exome sequencing, or WES.
With advanced sequencing technology, ~99.4% of coding sequence regions (CDS) are decoded successfully.

What’s the purpose?

One symptom may arise from genetic mutations within various genes. The diagnosis could be one of several thousand rare diseases.

We’re dedicated to finding the one out of those several thousand possibilities, so we maximize diagnostic yield by decoding all genes.

Check out 3billion’s ‘Gene Browser’ to see the gene list and statistics of patients with variants in the gene.

Go to Gene Browser

Test Specifications

Sequencing platform
illumina NovaSeq 6000
Target enrichment
IDT xGen Exome Research Panel V2
Read depth
2x150 bp
mean depth
Targeted regions
covered at >20X
Turnaround Time
Within 6 weeks

Improved Diagnostic Yield via Advanced Interpretation

The Problem

100,000+ genetic variants may be identified with each patient. Each variant needs to be interpreted for its association with the patient’s symptoms.

Each of these variants are interpreted following the ACMG Standards and Guidelines (Richards S et al., 2015). Each variant, which per guidelines must be interpreted by numerous perspectives and data constraints, takes ~90 minutes to interpret by a medical geneticist.

The Solution

Here at 3billion, we’ve automated this process entirely, via our variant interpretation system—EVIDENCE—which has advantages when compared to human experts:

  • Consistent, unbiased interpretation
  • Minimizes cost of interpretation
  • Improved interpretation, due to being up-to-date with data integration
Bar image visualizing advanced interpretation

Continuous Diagnosis by Reanalysis

Not All Patients Receive Diagnosis, Initially

Using WES-based tests, rare disease patients receive diagnoses at a rate of 25~57.5% (Wright CF et al., 2018 , Monies D et al., 2019 , Trujillano D et al., 2017 , Stark Z et al., 2016). More than half of the rare disease patients fail to get diagnosed with genetic testing.

Reanalysis Increases Diagnostic Rate(s)

Due to additional costs which are associated with interpretation during reanalysis, undiagnosed patients are faced with a financial burden. This is a large obstacle which we sympathize with.

Free Reanalysis Throughout Your Diagnostic Odyssey

EVIDENCE makes daily reanalysis possible. By reducing both time and cost to interpret a patient’s genome for newly-discovered rare diseases, the overall process is substantially more efficient.

At 3billion, we understand how difficult affordability may be for such services. That’s why we provide free reanalysis for patients who fail to receive diagnosis, from the initial trial until they are successfully diagnosed and end their diagnostic odyssey.

Testing Approved by KCDC

3billion is accredited by the Korean Center for Disease Control (KCDC) as a genetic testing provider, and is currently in the process of obtaining CAP certification.

We've collaborated with 120+ medical institutions spanning across 40+ countries, which have used our test to diagnose 10,000+ rare disease patients. In our initial validation study (N=330), ~43% of patients received definite diagnoses after clinical reassessment and family segregation testing (Seo GH et al., 2020).

KCDC: Korea Centers for Disease Control & Prevention logo

In-Depth Diagnosis Results

Report of 3billion's rare disease genetic test

■ Variant Listing & Explanation

3billion provides a list of variants identified, which may relate to a patient’s etiology. For each variant identified, the class, detailed information, and associated disease lists are provided.

■ Incidental Findings

Provided also are incidental findings via ACMG’s recommended list variants identified within 59 specific genes.

■ Test Statistics

Our results also include further information about the test, genome sequencing coverage, depth, and limitations encountered.

See for yourself:

3billion’s Diagnosis Process is Fast & Simple

5 diagnosis process: Order, Sample transportation, Genome sequencing, Interpretation, and Result

Order online. Need help?


Prepare the patient’s DNA sample(s) utilizing the buccal swab, EDTA test, or DBS test. The sampling kid is provided upon customer request. If you prefer to use your own sampling kit, please refer to the sample preparation guideline, found here.


Send the patient’s samples, included with the printed order information page, which is provided during the ordering process. Sample transportation is handled by a trusted global courier service.


We receive the sample at 3billion, and genome sequencing is conducted on the sample within our lab by medical geneticists.

  • 100,000+ genetic variants are identified from the sample, which are then interpreted by EVIDENCE
  • The interpretation is then confirmed by medical geneticists, in line with ACMG guidelines


Diagnostic grade variants are independently confirmed by Sanger validation. The final result(s) is/are delivered to the physician.