Emory University School of Medicine Department of Human Genetics
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Fabry Family Member Testing Project

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The Fabry Family Member Testing project is a special program offered through the American Association of Kidney Patients (AAKP) and Emory Genetics Laboratory (EGL) intended to test individuals with a known family history of Fabry Disease.  The objective of the project is to help family members obtain testing and appropriate follow-up.

In order to be tested for Fabry Disease through this program, you must be at risk to be affected by Fabry Disease based on the pattern of inheritance in your family and know the genetic change or mutation causing Fabry Disease in your family.  More information on the project or a testing kit can be obtained by calling the members of the Emory Lysosomal Storage Disease Team at (404) 778-8565.

Downloadable Testing Forms & Instructions
Fabry Family Member Testing Checklist
EGL Test Requisition
Fabry Family Member Requisition
Draw Site Instructions

Information on Fabry Disease:

 

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