Connect patients with no-cost testing.

Find undiagnosed rare disease patients faster

Sponsor a program, get the data you need, and help patients get answers

Your patients are online, are you?

Digital Phenotyping

Identify thousands of undiagnosed rare disease patients with your target disease online within days

Expand your reach

Go beyond claims data and your KOLs to reach all patients, not just those on the right physician waitlists

Select the best patients for testing

Collect deep phenotypic data directly from patients and leverage our proprietary method to select the best patients for testing

Recruit patients earlier

Find patients earlier in their diagnostic odyssey and help them access clinical trials, treatments, or other resources

At-Home Genetic Testing

Test selected patients remotely and confirm diagnoses in as few as 8 weeks

Industry leading diagnostic yield

Direct-to-consumer telemedicine platform including WES, WGS, hexanucleotide repeat expansion testing, and more with up to a 55% diagnostic yield

CLIA-certified and CAP-accredited

Each test is performed in a CLIA-certified and CAP-accredited lab. All tests are ordered by a physician and include remote genetic counseling

Zero barrier to entry for patients

Patients receive the test at no charge and can complete the test without leaving their home or coordinating with a doctor’s office

Complement your claims data

Prevalence modeling

Predict the locations of undiagnosed patients for your target variant or phenotype

Prevalence estimates

Predict the total number of patients with a disease and break down estimates per genetic variant

Benchmarked against newborn screening

Proprietary method with close-to-newborn screening accuracy

Validated by experts

Peer-reviewed publication is in progress

Ending the diagnostic odyssey

Serving our patients

Probably Genetic’s mission is to help 200 million rare genetic disease patients find out what they have. If you’re dedicated to improving the lives of our community, reach out.

Get in touch with us

55%

Superior diagnostic yield

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85%

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Check out one of our existing pharma partnerships

We’re helping a public drug developer find ultra rare mitochondrial disease patients

Check it out

Check out one of our existing programs

We’re helping find ultra rare mitochondrial disease patients.

Check it out