Dystrophic Epidermolysis Bullosa (DEB) is a rare genetic condition characterized by extreme skin fragility that results in the formation of blisters and sores from minor injuries or friction. It primarily affects the skin but can also involve internal mucosal surfaces, leading to complications such as esophageal narrowing and difficulty swallowing. DEB is caused by mutations in the COL7A1 gene, which is responsible for the production of type VII collagen, a crucial component of the dermoepidermal junction that helps anchor the outer layers of the skin to the underlying tissue.
Genetic testing is crucial in Dystrophic Epidermolysis Bullosa (DEB) for confirming the diagnosis by identifying mutations in the COL7A1 gene, which are responsible for the condition. This testing helps differentiate DEB from other types of epidermolysis bullosa and informs clinical management. Additionally, it aids in genetic counseling, providing affected families with information about inheritance patterns, risks to other family members, and implications for future pregnancies. This targeted approach facilitates better clinical management and personalized care strategies.
What is the Program?
In partnership with Krystal Biotech, Inc., the Decode DEB program offers no-charge genetic testing for patients with suspected dystrophic epidermolysis bullosa (DEB) and qualifying family members of patients diagnosed with DEB. This program is available to patients in the United States, including Puerto Rico. No-charge family variant testing is also available for blood relatives of patients diagnosed with pathogenic or likely pathogenic variants in COL7A1. Family variant testing must be ordered within 90 days of the initial family member’s test.
This program is available to patients residing in the United States, including Puerto Rico, who meet the following eligibility requirements:
For familial testing, the patient does not have to display clinical symptoms.
Collect a specimen in the collection tube. For information on ordering specimen kits, see Specimen Collection and Shipping section
Program Information
The Decode DEB program is a sponsored testing initiative aimed at providing genetic testing for individuals suspected of having Dystrophic Epidermolysis Bullosa (DEB), a rare genetic skin disorder. This program is designed to confirm diagnoses and enable better treatment strategies.
The program is available to individuals who have clinical symptoms suggestive of Dystrophic Epidermolysis Bullosa and require genetic testing to confirm the diagnosis. A healthcare provider must refer patients for testing under this program.
The program covers the full cost of genetic testing for DEB. This includes DNA extraction, genetic counseling pre- and post-test, and comprehensive sequencing to identify mutations in genes associated with DEB.
Healthcare providers can apply on behalf of their patients by submitting an application through the program’s website. The application must include patient consent and relevant medical documentation to support the diagnosis.
Participants in the Decode DEB program can benefit from an accurate genetic diagnosis, which is crucial for managing the condition. The results can help tailor treatment plans, inform family planning decisions, and connect patients with appropriate support and resources.
Results from the genetic testing are typically available within a few weeks from the receipt of the sample. The exact timing can vary based on the complexity of the test and the volume of samples being processed.
Krystal Biotech, Inc. (NASDAQ: KRYS) is a commercial-stage biotechnology company focused on the discovery, development and commercialization of genetic medicines to treat diseases with high unmet medical needs. VYJUVEK® is the Company’s first commercial product, the first-ever redosable gene therapy, and the first medicine approved by the FDA for the treatment of dystrophic epidermolysis bullosa. The Company is rapidly advancing a robust preclinical and clinical pipeline of investigational genetic medicines in respiratory, oncology, dermatology, ophthalmology, and aesthetics. Krystal Biotech is headquartered in Pittsburgh, Pennsylvania. For more information, please visit http://www.krystalbio.com, and follow @KrystalBiotech on LinkedIn and X (formerly Twitter).