Dystrophic Epidermolysis Bullosa (DEB)

Sponsored diagnostic testing programs for Dystrophic Epidermolysis Bullosa (DEB)

Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder caused by mutations in COL7A1, leading to fragile skin that blisters and scars with minimal friction. Individuals may experience chronic wounds, pain, and scarring. Diagnosis is confirmed through genetic testing.

1 program found for Dystrophic Epidermolysis Bullosa (DEB)

Programs

1 program
Dystrophic Epidermolysis Bullosa (DEB)

Decode DEB

Sponsored by
Krystal Biotech

Krystal Bio Custom DEB Panel

This program provides complimentary genetic testing for patients in the U.S. and Puerto Rico with clinical features suggestive of epidermolysis bullosa. Testing supports confirmation of EB subtype and identification of pathogenic variants across relevant skin fragility genes. Asymptomatic relatives are eligible for familial testing, provided no prior clinical EB genetic testing has been performed.

Dermatology
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Performing lab
Invitae | Labcorp