Krystal Bio Custom DEB Panel
No-cost 25-gene NGS panel for suspected epidermolysis bullosa (incl. COL7A1). Saliva, buccal, or blood via mailed kit; confirms EB subtype.
Accessed through the Decode DEB Sponsored Testing Program•Sponsored by Krystal Biotech•Performed by Invitae | Labcorp
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Decode DEB program, sponsored by Krystal Biotech and performed by Invitae at Labcorp, provides no-cost genetic testing for patients presenting with clinical features of epidermolysis bullosa. The 25-gene panel facilitates subtype confirmation and pathogenic variant identification across relevant skin fragility genes, with COL7A1 as the primary target. Familial testing for asymptomatic relatives is also available when no prior clinical EB genetic testing has been performed. Ordering clinicians and participating patients have no obligation to recommend, prescribe, or use any products or services from the sponsor or laboratory.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient resides in the United States or Puerto Rico
- Patient has clinical symptoms consistent with epidermolysis bullosa (EB)
Workflow
How to use this program
- 1
Confirm Eligibility & Review Testing
Assess whether the patient meets eligibility criteria and discuss the purpose and scope of testing.
- 2
Order the Test
Order online through the Invitae provider portal, or submit the Decode DEB requisition form (TRF1018) and select the Krystal Bio Custom DEB Panel.
- 3
Collect & Ship Specimen
Collect a saliva (Oragene), buccal swab (OCD-100), or blood (3-mL EDTA) specimen using the Invitae kit; label with two identifiers and ship to Invitae per the kit instructions.
- 4
Review Results & Provide Counseling
Results return in about 3 weeks. Review findings with the patient; Invitae genetic counselors are available for interpretation support.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
Which patients are appropriate for the Decode DEB sponsored genetic testing program?
The Decode DEB program is designed for patients residing in the United States or Puerto Rico who present with clinical features suggestive of epidermolysis bullosa. Asymptomatic relatives of an affected individual may also qualify for familial variant testing, provided they have not undergone prior clinical genetic testing for EB. Healthcare professionals must confirm that patients meet the program's eligibility criteria when placing the order.
What does the Decode DEB 25-gene panel cover and what methodology is used?
The Krystal Bio Custom DEB Panel analyzes 25 genes associated with skin fragility and epidermolysis bullosa subtypes, with COL7A1 as the primary gene of interest for dystrophic EB. Testing is performed via next-generation sequencing (NGS) by Invitae at Labcorp. The panel supports EB subtype confirmation and identification of pathogenic variants across the spectrum of EB-related genes.
What specimen types are accepted for the Decode DEB program?
The Decode DEB program accepts saliva, buccal swab, or whole blood specimens. Collection kits can be requested through the Invitae portal. This flexibility in specimen type may be particularly relevant for patients with EB, where venipuncture may present wound-care considerations.
Is there any cost or prescribing obligation associated with ordering the Decode DEB test?
Krystal Biotech covers the full cost of testing through the Decode DEB program, so there is no charge to the patient or ordering clinician. Participation in the program carries no obligation to recommend, purchase, prescribe, or support any products or services from Krystal Biotech, Labcorp, or any other party. Orders can be placed through the Invitae online portal or via paper requisition.
Is genetic counseling available for patients tested through the Decode DEB program?
Genetic counseling is available through the Decode DEB program for patients and clinicians in the United States. This service is provided at no cost as part of the sponsored program and can support result interpretation, variant classification discussions, and family counseling considerations.
How is patient data handled in the Decode DEB sponsored testing program?
Third parties and commercial organizations involved in the Decode DEB program may receive de-identified (pseudonymized) patient data but do not receive patient-identifiable information. Ordering clinician contact information may be shared with participating commercial organizations. Full details are outlined in the informed consent documentation provided at the time of ordering.
Which patients are eligible for Decode DEB Dystrophic Epidermolysis Bullosa genetic testing?
Patients may qualify for Decode DEB if they meet the program's eligibility criteria:
- Patient must reside in the U.S. or Puerto Rico.
- Patient presents with clinical features suggestive of EB.
- Patient has no prior clinical genetic testing for EB.
- For familial testing, asymptomatic relatives may be tested if a pathogenic variant is known or suspected in the family.
See an issue with this program?