Help your rare patient get diagnosed

Affordable genetic test on 7,000+ rare genetic diseases at once.

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Greater gene-disease spectrum behind each patient

Many rare disease patients with different genetic causes share similar symptoms. Genetic test on narrow disease spectrum leads to a low diagnostic rate on rare disease patients.

To save time and cost for diagnosis, genetic test covering all possible diseases will be beneficial for the patients.

3billion's rare genetic test covers whole 20,000 genes for more than 7,000 known rare genetic diseases.

List of diseases related to 25 phenotype categories. Each category has average of 1200 related diseases.

Free reanalysis

for undiagnosed patients

3billion provides a reanalysis service without additional cost until the patients receive diagnoses.

About 10% of undiagnosed patients can receive diagnoses by reanalyses. An average of 20 rare disease-gene associations are unraveled each month. 75% of the newly diasnosed patients are diagnosed from the newly identified disease-gene associations (Machini K et al., 2019, Costain G et al., 2018).

White reanalysis sign with circling arrows

Advanced interpretation, reliable diagnostic rate

3billion process schematic from patient visit to diagnosis

Over 100,000 genetic variants found on 20,000 genes need to be interpreted for each patient. The interpretation takes 6.5~8.5 hours per each patient (Machini K et al., 2019) by trained medical geneticists. The complexity of variant interpretation makes genetic testing expensive and inconsistent.

3billion devised a variant interpretation system, EVIDENCE, to automate this process. With the help of EVIDENCE, the variant interpretation takes less than 5 minutes per patient on average.

The EVIDENCE produces consistent variant interpretation according to the current medical guideline, ACMG-AMP interpretation guideline. 3billion's medical geneticist gives the diagnosis and confirms reported variants by Sanger validation (Richards S et al., 2015).


Collaboration with 98 medical institutions in 32 countries

Collaborator's logos: Clinic for Special Children, Nagoya University, UNICAMP, University of Malaya and more

3billion has been collaborating with 98 medical institutions across 32 countries to diagnose rare disease patients. In the initial collaborative study, possible causative variants were found in 65.1% of patients, and 42.7% of patients were finally diagnosed with follow-up assessment by the physicians (Seo GH et al., 2020).

Symptom search

Type your patient's symptoms to check his/her possible dieases.

Don't know where to begin? Check out the list below - the most common symptoms for rare disease patients.

Intellectual disabilityGlobal developmental delaySeizuresGeneralized hypotoniaShort statureSmall head(Microcephaly)Hearing impairmentAbnormal facial shapeCurvature of spine(Scoliosis)

How To Use

  1. Please type in your patient's symptoms in the Search Tool (HPO terms required).
  2. More symptoms you put, more accurate result will be provided.
  3. Click .
  4. You will get your results!
    • Diagnostic profiles of patients having similar symptoms to your patient.
    • Possible disease/gene information.

Check out our sample report

Our report contains testing results, variant interpretation and incidental finding (Kalia et al. 2016).

Sample report for 3billion's rare disease genetic test