Help End Your Patient’s Diagnostic Odyssey

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Covering a wide spectrum of rare diseases

Many rare disease patients have different etiology despite the same symptoms. Complex etiology coupled with narrow coverage of diseases leads to low diagnostic rates.

We strive to improve testing efficiency by covering ~20,000 genes and 7,000+ currently-known rare genetic diseases.

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

Unlimited reanalysis

for undiagnosed patients

We provide reanalysis until the patient is successfully diagnosed at no additional cost.

In a study, more than 20% of undiagnosed patients were diagnosed through follow up reanalysis (Fung JLF et al., 2020). Reanalysis with nearly 300 gene-disease associations discovered annually can help patients end their diagnostic odyssey.

White reanalysis sign with circling arrows

Improved diagnostics 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 the complexity of variant interpretation, genetic testing is often inconsistent and expensive.

We devised a solution utilizing cutting-edge technology—a variant interpretation system called EVIDENCE—to automate this process. Variant interpretation with EVIDENCE takes an average of less than 5 minutes per patient (Kim, SY et al., 2021); and it produces consistent variant interpretation that follows current medical and ACMG-AMP interpretation guidelines.

3billion's medical geneticists confirm reported variants by Sanger validation (Richards S et al., 2015).

Try our symptom search

  1. Enter all symptoms you are experiencing in the search box.
    • As you type, you will be given options of HPO terms closest to the entered symptom. HPO terms must be selected for the search.
    • Enter as many of your symptoms as possible for most accurate results.
  2. Press the
    magnifying glass to submit your symptoms.
  3. You will be able to view and download your results after submitting your symptoms.
    • Results include diagnostic profiles of patients with similar symptoms, along with possible disease and/or gene information.

Symptom search

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

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)

Curious about our report?

We provide in-depth information on the test results, variant interpretation, and secondary findings.

Sample report for 3billion's rare disease genetic test