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Get Tested for SDS

Timely and accurate diagnosis of SDS is critical for patients to access optimal care, education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. This page is dedicated to our Probably Genetic sponsored genetic testing program, available to people in the United States, in all states except New York. If this program doesn't work for you, please check out or other resources or email us at connect@SDSAlliance.org.

We are excited to announce our new collaboration with Probably Genetic as a patient-finding partner for our community. If you or anyone you know is looking for a trusted genetic testing resource, Probably Genetic runs a no-cost, low-barrier testing program for individuals experiencing primary immunodeficiency disorders.

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access affordable genetic testing. The company has recently launched a no-cost genetic testing program for individuals with primary immunodeficiencies. Eligibility is determined by a brief, user-friendly quiz about the patient’s symptoms, and testing only requires a saliva sample collected at home. Clinical-grade whole exome sequencing reports all pathogenic, likely pathogenic, and variants of uncertain significance associated with the patient’s reported symptoms. Apply to determine if you are eligible using their symptom checker below, or use this link. 

Probably Genetic graphic 1 for Shwachman-Diamond Syndrome Alliance SDS
Probably Genetic graphic 2 for Shwachman-Diamond Syndrome Alliance SDS

To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance.

 

How it works

  • Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes.

  • The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks.

  • If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up.

  • Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not immuno-related.

  • If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results.

  • View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data.

 

Take the Symptom Checker below, or use this link.

The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

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