On average, each person diagnosed with Fabry disease has five additional affected family members.1
Have they all been identified?
Each individual with Fabry disease could have several relatives affected with this potentially debilitating condition that have not been diagnosed. With treatment available in the form of enzyme replacement therapy, it is important to identify all at-risk family members.
The American Association of Kidney Patients (AAKP) in partnership with Emory Genetics Laboratory (EGL) has developed a program to allow for FREE molecular genetic testing for relatives of individuals diagnosed with Fabry disease. To qualify for this program, an individual must be at risk to develop Fabry disease based on the pattern of inheritance within their family. They must also have access to the report outlining the genetic mutation previously identified in their affected family member in a CLIA-certified laboratory. Once this information has been obtained, EGL will perform targeted mutation analysis at NO COST to the individual; each individual will only be responsible for the costs associated with their blood draw and the shipment of their sample to EGL.
For more information regarding this project, please contact Erin Riggs, MS at 404-778-8485, Dawn Laney, MS at 404-778-8485, or any of our lysosomal genetic counselors at 800-200-1524. We also invite you to viisit our website at http://genetics.web.emory.edu/LSDC/fabryproj.php. 1J Genet Counsel 2008; 17(1): 79-83