Rare Disease Genetic Test

Diagnostic testing for patients across all rare genetic diseases, including Cystic fibrosis, Fabry disease, Epilepsy, Hemophilia, all types of hereditary cancers, etc.

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

One test to cover all genes

Decoding all genes

A genetic variant in a gene causes a rare genetic disease. To maximize the diagnostic yield, all DNA sequences of 20,000 genes can be decoded by whole exome sequencing.
With advanced sequencing technology, 99.4% of coding sequence(CDS) regions are decoded on average.

One symptom, many potential diseases

Why do we decode all genes?

One symptom can arise from genetic mutations in various genes. If a patient has a developmental delay, more than 2,500 diseases with different genetic origins could be the cause.

To test all rare genetic diseases and maximize diagnostic yield, we decode all genes.

Download gene list


Advanced interpretation, improved diagnostic yield

Interpretation problem

From each patient, more than 100,000 genetic variants can be identified. Each of the variants needs to be interpreted for its association with the patient's symptoms.

Each variant is interpreted following the ACMG Standards and Guidelines (Richards S et al., 2015). ACMG guideline is composed of 28 rules, which means each variant needs to be interpreted in 28 different rules with different perspectives and data. It takes an average of 90 minutes to interpret a variant by a trained medical geneticist.

AI for interpretation

We developed an automated variant interpretation system, called EVIDENCE, to interpret 100,000 variants identified in each patient according to the ACMG guideline. EVIDENCE has several advantages compared to human experts as below.

  • Consistent and unbiased interpretation
  • Minimize interpretation cost
  • Improved interpretation by up-to-date data integration
Bar image visualizing advanced interpretation

Continuous diagnosis by reanalysis

Not all patients receive diagnosis initially

Currently, 25~57.5% of rare disease patients receive diagnoses with WES based tests (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

About 10% of patients who fail to get diagnosed at the initial trial receive a diagnosis with regular reanalysis (Machini K et al., 2019, Costain G et al., 2018). This is why we conduct regular reanalysis to maximize the diagnostic rate.

Cost is the challenge. As reanalysis requires additional interpretation cost, patients with undiagnosed rare disease face financial burden.

Free reanalysis until diagnosed

EVIDENCE, our fully automated interpretation system, makes daily reanalysis possible. It reduces the time and cost to interpret a patient’s genome on newly discovered rare diseases to a fraction.

3billion provides a free reanalysis service for patients who fail to receive diagnosis at the initial trial until diagnosed

Validated diagnostic testing

98 medical institutions across 32 countries have used our test to diagnose 10,000 rare disease patients. In our initial validation study on 330 rare disease patients, 42.7% of patients received definite diagnoses after clinical reassessment and family segregation testing (Seo GH et al., 2020).

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

KCDC: Korea Centers for Disease Control & Prevention logo

Results for diagnosis

Report of 3billion's rare disease genetic test

■ Causal variants

List of variants identified to cause diseases of patients. For each variant, class of variant interpretation, detailed information of the variants, and associated disease are provided.

■ Incidental finding

List of variants identified in 59 genes recommended by ACMG for reporting incidental findings.

■ Test statistics

Overall information on the test including genome sequencing coverage, depth, and limitations.

Check out our sample report

Simple process to get diagnosed

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

Order online.


Prepare patients’ DNA samples in the buccal swab, EDTA blood, or dried blood spot. The sampling kit is provided upon customer request. You may also use your custom sampling kit.

The quantity and quality of the sample are important. Please refer the sample preparation guideline.


Send patients’ samples with printed order information page. The order information page is provided during the order process. Sample transportation is handled by a trusted global courier service.


Once we receive the sample, genome sequencing on the sample is conducted in our lab.


More than 100,000 genetic variants identified from the sample are interpreted by a streamlined analysis system, EVIDENCE, and confirmed by medical geneticists according to ACMG guidelines.


The diagnostic grade variants are independenlty confirmed by Sanger validation. The final result is delivered to the physician.