No-cost testing for rare disease

Genetic testing for 4,000+ diseases. See if you're eligible for free at-home genetic testing today.

How it works

1. See if you are eligible

Complete a profile to determine your eligibility and pre-order your test. It takes 5 minutes.

If you are eligible, a physician reviews your order, and a test kit is shipped to your home.

2. Collect and Send

Receive the test kit at home, provide a saliva sample, and return the test kit using the prepaid box.

The lab sequences your sample and an analysis team identifies disease causing variants.

3. Receive your results

In 8 weeks, review your clinical genetic report and discuss your results during a complimentary genetic counseling session.

What's the next step?

Eligibility.

Spend a few minutes filling out the symptom checker.

If you match the eligibility requirements, you can claim free testing and genetic counseling.

Why is this test free?

The goal of this free testing program is to help more people with rare diseases find out what’s causing their symptoms and improve knowledge on rare diseases.

Here is how your information is protected:

1

Probably Genetic is conducting and funding this program.

This makes us the sole operator and custodian of all data. We take this responsibility  and the trust you place in us incredibly seriously.

2

We will never share identifiable personal, contact, or medical information with any outside party.

Third parties or commercial organizations may receive aggregate de-identified patient data from this program.

3

Physician information may be shared with third parties

Third parties or commercial organizations may receive the contact information of your doctors that you provide as part of the program.

100k+

Patients

900k+

Phenotypes

Want to Discover Undiagnosed Patients?

All rare disease patients are online.

What people are saying

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

Blog

Understanding STXBP1-Related Disorders:

Learn more about STXBP1 and other related neurodevelopmental disorders on our blog.

Effective management of STXBP1 involves a combination of medical care, supportive therapies, and a strong support network. Diagnosis is a critical step in managing the condition more effectively, and resources are available to help patients and families navigate this journey.

About Probably Genetic

Probably Genetic is changing the lives of patients living with severe, complex diseases. Our technology discovers undiagnosed patients online, analyzes their disease state using machine learning and at-home testing, and connects patients to relevant resources. In doing so, we help patients access diagnoses, clinical trials, and treatments as early as possible. Our data platform is used by drug developers and patient advocacy groups to develop and launch treatments for these patients.

Get tested for 4,000+ rare diseases

Start your genetic testing journey today.