Information on Testing for Lysosomal Storage Diseases

Most tests for Lysosomal Storage Diseases involves analyzing blood for disease specific chenmicals (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 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 ask questions about the specific condition at the interactive website Http://www.ThinkGenetic.com.

Free Fabry Family Member Testing Project

The Fabry Family Member Testing project, sponsored by the American Association of Kidney Patients (AAKP), is a special program intended to test individuals with a known family history of Fabry Disease.  In order to be tested for the Fabry Disease through this program, you must be at risk to be affected by Fabry Disease based on the Fabry Disease pattern of inheritance in your family and know the genetic change or mutation causing Fabry Disease in your family.

In order to participate in the program, first talk with your doctor about testing, then order a testing kit by calling the Emory Fabry Center at (404) 778-8518 or (800) 200-1524 or by emailing Robin Vinson at robin.vinson@emory.edu or Dawn Laney at dawn.laney@emory.edu.

To order a kit you will need to provide a mailing address and whether you would like a saliva collection kit or a blood draw kit.  Forms to complete and send back as well as shipping materials will be included with the kit.  Forms can also be downloaded below.