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? First talk with your doctor about testing, then order a testing kit. Kits can ordered by emailing the project team at fabry.testing@emory.edu 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 fabry.testing@emory.edu 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.

 

Information on Testing for Lysosomal Storage Diseases

Most tests for Lysosomal Storage Diseases involves 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 genetic testing.  We have developed the three handouts below to help

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.  Another option to learn more about testing is to review information about the specific condition at the interactive website http://www.ThinkGenetic.com.