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Dermatology / GeneticsDystrophic Epidermolysis Bullosa (DEB)

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 help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

Living with skin that blisters or tears easily can be painful and overwhelming, and knowing the exact genetic cause matters for your care. The Decode DEB program provides genetic testing at no cost to you, covering a 25-gene panel that can identify the specific type of epidermolysis bullosa (EB) you or your loved one may have, including dystrophic epidermolysis bullosa (DEB). Krystal Biotech sponsors the program and covers the full cost of testing, so you will never receive a bill. Family members of someone with EB may also be eligible, even if they do not have symptoms themselves.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • The patient lives in the United States or Puerto Rico
    • The patient has clinical symptoms consistent with epidermolysis bullosa (EB), a genetic skin-blistering condition

What to expect

How the process works

  1. 1

    Check Eligibility & Learn About Testing

    Your provider will confirm whether you meet the program’s eligibility criteria and explain the testing process.

  2. 2

    Your Provider Orders the Test

    Your provider orders the test through Invitae — online or by submitting the Decode DEB requisition form.

  3. 3

    Provide a Sample

    You’ll give a saliva, buccal swab, or blood sample using an Invitae collection kit. Samples need two identifiers; your provider handles shipping to Invitae.

  4. 4

    Receive Results & Discuss Next Steps

    Results go to your provider in about 3 weeks. Your provider reviews them with you; Invitae genetic counseling support is available.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

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

Common questions about this program

What is the Decode DEB program for dystrophic epidermolysis bullosa?

The Decode DEB program is a sponsored genetic testing program for people in the United States and Puerto Rico who have signs of epidermolysis bullosa, a group of conditions that cause fragile, easily blistering skin. The program uses a 25-gene panel, including the COL7A1 gene linked to dystrophic epidermolysis bullosa, to help identify the genetic cause and confirm the specific EB subtype. Krystal Biotech sponsors the Decode DEB program and covers the full cost of testing.

Is the Decode DEB genetic test for epidermolysis bullosa really free?

Yes, the Decode DEB program is completely free to you. Krystal Biotech covers the entire cost of the genetic testing, so there is no charge, no copay, and no bill sent to you or your insurance. The program is designed to remove the financial barrier so that anyone who qualifies can get answers about their condition.

What kind of sample is needed for the Decode DEB genetic test?

The Decode DEB program accepts a saliva sample, a buccal swab (a gentle swab of the inside of the cheek), or a whole blood draw. Your healthcare provider will help determine which option works best for you or your child. These are simple collection methods, and your provider can request a collection kit if needed.

Can family members get free genetic testing through the Decode DEB program?

Yes, asymptomatic family members of someone affected by epidermolysis bullosa may be eligible for testing through the Decode DEB program at no cost. This is called familial testing and can help determine whether relatives carry a variant in a gene like COL7A1. To qualify, the family member should not have had prior clinical genetic testing for EB.

Is genetic counseling available through the Decode DEB program?

Genetic counseling is available as part of the Decode DEB program for participants in the United States. A genetic counselor can help you understand your test results, what they mean for your health and your family, and what options may be available. This support is included at no cost to you through the program.

How does the Decode DEB test help identify the type of epidermolysis bullosa?

The Decode DEB program uses a 25-gene panel analyzed with next-generation sequencing (NGS) to look for changes in genes associated with different types of epidermolysis bullosa, including COL7A1, the primary gene linked to dystrophic EB. By identifying the specific genetic variant, the test can confirm whether someone has dystrophic, junctional, simplex, or another subtype of EB. This information can be important for guiding care and understanding the condition better.

Who qualifies for Decode DEB Dystrophic Epidermolysis Bullosa genetic testing?

Patients may qualify for Decode DEB if they meet the program's eligibility criteria:

  • You must live in the United States or Puerto Rico.
  • You may qualify if you have symptoms consistent with epidermolysis bullosa (EB).
  • You are not eligible if you’ve already had genetic testing for EB in a clinical lab.
  • Family members of an affected individual may qualify even without symptoms.

Test details

  • ConditionDystrophic Epidermolysis Bullosa (DEB)
  • Test typeTargeted NGS Panel
  • Test codePTSTY5CP
  • Genes / markers
    25
  • Key genes / markersCOL7A1
  • Specimen
    SalivaBuccal swabWhole blood · 3 mL
  • Turnaround timeNot specified
  • LabInvitae | Labcorp
  • Program regionUnited States, Puerto Rico

Next steps

Share this information with your dermatologist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Invitae | Labcorp.

Questions to ask your doctor about Krystal Bio Custom DEB Panel

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

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