Help end your patient’s diagnostic odyssey

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

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Covering a wider spectrum of rare diseases to help patients

Despite sharing symptoms, many rare disease patients have different etiology. Coupled with an extremely narrow disease spectrum within genetic testing, this leads to low diagnostic rates.

3billion’s genetic testing process seeks to improve efficiency across the board. By covering 20,000+ genes, we can detect 7,000+ currently-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 full-cycle reanalysis until the patient is successfully diagnosed, at no additional cost.

~10% of undiagnosed patients receive diagnosis via reanalyses. With ~20 rare disease-gene associations discovered each month, 75% of newly-diagnosed patients end their diagnostic odyssey via these new associations. (Machini K et al., 2019, Costain G et al., 2018).

White reanalysis sign with circling arrows

Improved Diagnostic Rates via Automated Variant Interpretation

3billion process schematic from patient visit to diagnosis

100,000+ genetic variants found across 20,000+ genes must be interpreted for each patient. This process takes medical geneticists anywhere from 6½ to 8½ hours, per patient (Machini K et al., 2019). Due to complexity of variant interpretation, genetic testing is both expensive and often inconsistent.

Here at 3billion, we’ve devised a solution—a variant interpretation system deemed EVIDENCE—to automate this process. By utilizing cutting-edge technology, variant interpretation with EVIDENCE takes an average of less than 5 minutes, per patient.

EVIDENCE produces consistent variant interpretation which aligns with current medical and ACMG-AMP interpretation guidelines.

3billion’s medical geneticist has gone on to confirm reported variants by Sanger validation (Richards S et al., 2015).


We've collaborated with 120+ medical institutions across 40+ countries

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

Since 2018, 3billion has collaborated with 120+ medical institutions and corporations around the world, spanning 40+ countries, all of us with the common goal of ending the diagnostic odyssey.

In initial collaborative studies, causative variants were found in 65.1% of patients, while 47.2% of patients were diagnosed during a follow-up assessment with their physician(s) (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)

Need some help? No problem.

  1. Type in all current symptoms you are experiencing in the search box
    • For most accurate results, please use HPO terms
    • The more symptoms you submit, the more accurate results may become
  2. Press the  magnifying glass to submit your terms
  3. After entering your email on the following screen, you will be able to view and download your results
    • Results include diagnostic profiles of patients with similar symptoms
    • Possible disease and/or gene information is also included

Curious how reports work?

Our reports contain in-depth information regarding testing results, variant interpretation, and incidental findings (Kalia et al. 2016).

Sample report for 3billion's rare disease genetic test