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Crear conciencia

¿Le gustaría ayudar a aumentar la conciencia y la financiación para el Síndrome de Shwachman-Diamond? ¡Has venido al lugar correcto! Encontrará muchas herramientas aquí, y seguiremos agregando más. Siéntase libre de solicitar cualquier cosa que pueda necesitar.

Crear conciencia ayuda a salvar vidas. 

  • La concientización en el público en general aumenta las posibilidades de que las familias de los pacientes consideren obtener un diagnóstico antes y, por lo tanto, se beneficien de una mejor atención médica 

  • La concientización en la comunidad médica ayuda a los proveedores a considerar un diagnóstico de SDS antes y les permite brindar una mejor atención médica.

  • La conciencia en la comunidad de investigación puede atraer más proyectos de investigación y colaboraciones, acelerando el desarrollo del tratamiento 

La recaudación de fondos ayuda a respaldar nuestros programas críticos necesarios para permitir y acelerar la investigación.


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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