Garrett's House is dedicated to the support, advice, and education of a genetic skin condition called Epidermolysis Bullosa or EB for short. Currently there is no cure or effective treatment for EB. Please take a moment to learn about EB, and how you can support others who struggle with EB everyday. Garrett's House also honors the memory of those who lost their brave fight against EB. Please check out the Garden of Angel to learn more about the precious butterfly angels.

May 5, 2015

Testing for EB

Skin Biopsy for EB

Samples of the skin or a blister is taken by a trained doctor.  The skin samples must be processed for specific studies, immunofluorescence antigen (IFA) mapping and transmission electron microscopy (EM).
Immunofluorescence antigen mapping is performed to identify exactly where the blister has occurred and which proteins are involved (absent or diminished in amount). This is a specialized study that should be done by a pathologist in a laboratory that specializes in this procedure.

Only two labs in the US can process EB biopies:

1) Beutner Labs, Inc.
3580 Harlem Road
Buffalo, NY 14215
1-800-288-0549
http://www.beutnerlabs.com/contact/

2) Stanford Dermatopathology Service
Department of Pathology - H2110
Stanford Medical Center
300 Pasteur Drive
Stanford, CA 94305
650-723-6736
http://dermatopathology.stanford.edu/contact.html


Genetic Testing

Molecular genetic studies (DNA analysis) may be done after the subtype of EB has been confirmed by skin biopsy. Molecular studies are done to identify the specific genetic mutation and to determine the mode of inheritance (recessive vs. dominant)

Currently only two labs in the US can perform genetic test for EB.

1) GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
301-519-2100
www.genedx.com 


2) The Molecular Genetics Laboratory at Cincinnati Children’s  Hospital

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