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


  • Was diagnosed with epidermolysis bullosa (EB) but doesn’t know the specific EB type


  • Was diagnosed with any type of EB based on symptoms alone


  • 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.

Understanding the results of a genetic test is important for people and their family to receive:

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.

Before you meet with your doctor, it can help to gather your family history and write down any symptoms you may have.

Download the brochure below to learn more about genetic testing for DEB.

Understanding Genetic Testing Brochure

Information about genetic testing that you can use as a resource for discussion with your healthcare team.

Support and Resources

You are not alone on your DEB journey

DEB Patient Brochure

Information about DEB for you and your family to download and save

Not all blisters are the same. Could yours be DEB? Ask your doctor about a genetic test for DEB