Testing for dystrophic epidermolysis bullosa (DEB)
It’s important for you or a loved one to accurately confirm DEB
DEB symptoms can appear the same as other EB types and even other skin conditions. This means diagnosis based on symptoms alone can be unreliable.
Tests to confirm DEB
Skin biopsy
Skin biopsy can help show EB type, but biopsy may not be able to distinguish dominant DEB (DDEB) from recessive DEB (RDEB). Biopsy can sometimes be incomplete or inaccurate.
Genetic testing
Genetic testing can accurately identify DEB. In people living with DEB, a genetic test can determine:
- The specific COL7A1 gene mutation(s)
- Whether it’s DDEB or RDEB
Genetic testing uses a sample of blood or a cheek swab to confirm EB type.
Who should get confirmatory testing?
If you or a loved one:
- Has DEB-like blisters, wounds, or symptoms
OR
- Was diagnosed with epidermolysis bullosa (EB) but doesn’t know the specific EB type
OR
- Was diagnosed with any type of EB based on symptoms alone
AND/OR
- If a family member has been diagnosed with EB or DEB
A full reliable DEB diagnosis relies on genetic testing or skin biopsy.
Genetic confirmatory testing is the recommended way to accurately diagnose DEB
EB medical experts recommend genetic testing for the diagnosis of EB type.
A genetic test can determine:
- The specific type of EB
- The genetic cause and if inheritance is
dominant or recessive
In DEB, a genetic test would show:
- The COL7A1 gene being affected
- If it’s dominant or recessive DEB
More tailored and active care specific to DEB
Comprehensive and attentive monitoring for risks specific to DEB, including SCC and internal complications
Access to community support and resources
Accurate genetic counseling and family planning
A clearer understanding of severity now and in the future
Your doctor can provide more information about genetic testing
Talking to your doctor is an important first step to confirming your diagnosis. Prepare for your appointment by gathering family history
and writing down any symptoms and questions you may have.
| Here are some key questions to ask: |
|---|
| How can I get a genetic test? |
| Will my insurance cover genetic testing? |
| How do I provide a sample for testing? |
| How long before my test results are ready? |
| What are the next steps after I receive my results? |
Genetic testing programs may be available to patients at no cost.
