Free Fabry Diagnostic Testing & Education Project
The FREE Fabry Diagnostic Testing and Education Project, run by the American Association of Kidney Patients (AAKP) and sponsored by Amicus Therapeutics and Sanofi-Genzyme, Inc., is a special program designed to test individuals who have health issues seen more often in Fabry disease and/or have a known family history of Fabry Disease.
Need testing?
Talk with your doctor about testing, then order a testing kit. Kits can be ordered by emailing the project team at Email or by calling the Emory Fabry Center at 404-778-8518 or 800-200-1524.
Have questions about the program, testing, or forms? Please email the project team at Email or by calling the Emory Fabry Center at 404-778-8518 or 800-200-1524.
To order to be shipped a kit you will need to provide a mailing address and tell us if you would like a saliva collection kit or a blood draw kit. Forms, as well as shipping materials, will be included with the kit. Forms can also be downloaded below.
Testing for Lysosomal Storage Diseases
Most tests for Lysosomal Storage Diseases involve analyzing blood for disease-specific chemicals (enzymes and biomarkers) in a Biochemical Laboratory and reading through the "spelling" of a gene in a Molecular Genetic laboratory. The most effective testing happens in laboratories that specialize in this type of genetic testing. We have developed the three handouts below to help:
- Fabry disease Testing Roadmap
- Lab Testing for Lysosomal Storage Diseases
- Lysosomal Storage Diseases: Don't be caught missing this diagnosis!
To speak with someone about how to test for a specific Lysosomal Storage Disease, you can talk to your doctor, email us at fabry.testing@emory.edu, or call the Emory Lysosomal Storage Disease Center at 404-778-8518 or 800-200-1524.