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

Why Should Genetic Testing be done?

 

There are actually many reasons to have genetic testing done.  Here are just a few

~ much more accurate than a biopsy

~ will not only give you the type of EB, but subtype too

~aids in family planning; not only for parents, but for the child as well

~ allows for other family members to be testing to see if they are carriers of the same mutation(s)

~ offers insight as to the prognosis of your form of EB

~prepares you for which complications you need to be on the look out for

~allows you to participate in clinical trials and potential be one of the first to receive the cure when it is found.  (otherwise you'd have to have genetic testing done prior to participating any clinical trial/cure)


Once you have received your results, here is a list of question to ask, if the doctor doesn't already answer them.

1) How many mutations were found?

2) Which gene(s) were they found on?

3) Which form(s) of EB are these mutations associated with? 

4) Have the mutations ever been reported before in others with EB?

5) Are the mutations homozygous or heterozygous? 

6) What is the inheritance pattern for the mutation(s)?

7) Should, we have parents be, tested?  Should our other children be tested as well?


 
 
Genetic Testing

Molecular genetic studies (DNA analysis) is a must more accurate way to diagnosis EB.  Molecular studies are done to identify the specific genetic mutation and to determine the mode of inheritance (recessive vs. dominant)  There is a new genetic test that tests for ALL known EB mutations in one sample: It is called the Epidermolysis Bullosa (EB) XomeDx®Slice  
 
 
Below are two labs in the US  that 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
 
 
 
 
Skin Biopsy for EB

Though not the go-to in EB diagnostics anymore, here is the information for those that genetic testing is not a option for.
 
Samples of the skin or a blister may taken by a trained doctor to determine the type of EB one has.  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 biopsies:

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

 
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