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Dermatology / GeneticsDystrophic Epidermolysis Bullosa (DEB)

Next Gen Krystal Biotech-l DEB SP288 Panel

No-cost genetic test analyzing key genes for epidermolysis bullosa, including COL7A1, to support diagnosis of dystrophic EB and related skin fragility disorders.

Accessed through the Decode DEB Sponsored Testing Program•Sponsored by Krystal Biotech•Performed by Prevention Genetics

Designed to support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

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.

When to consider this test

Patient selection

  • 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.

Workflow

How to use this program

  1. 1

    Confirm Eligibility & Review Testing

    Assess whether the patient meets eligibility criteria and discuss the purpose and scope of testing.

  2. 2

    Order the Test

    Submit the appropriate test requisition form. Ensure all fields and required information are complete.

  3. 3

    Collect & Ship Specimen

    Collect the specimen and label with at least two identifiers. Ship Monday–Saturday; refer to specimen type stability guidelines as needed.

  4. 4

    Review Results & Provide Counseling

    Results return in about 3 weeks. Review findings with the patient. PreventionGenetics geneticists and counselors are available for assistance with interpretation.

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 Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). 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

What does this program provide?

The program offers complimentary genetic testing for patients with clinical signs of epidermolysis bullosa, as well as familial testing for eligible relatives. Testing supports EB diagnosis and subtype classification.

Which patients qualify?

Patients residing in the United States or Puerto Rico who show clinical features consistent with EB are eligible. Patients must not have undergone prior clinical EB genetic testing. Asymptomatic relatives may qualify for familial testing.

What genes are included in the panel?

The panel assesses key EB-associated genes, including COL7A1, and additional genes linked to epidermolysis bullosa and inherited skin fragility disorders.

How do I order the test?

Order the test using the PreventionGenetics test requisition form. Kits for blood, saliva, or buccal collection can be requested through the kit order form.

What are the specimen requirements?

Specimens must be labeled with at least two identifiers and shipped Monday–Saturday. Blood specimens have specific stability requirements; saliva and buccal specimens may be shipped at room temperature.

What is the turnaround time?

Results typically return in approximately three weeks after PreventionGenetics receives the specimen and requisition form.

Is genetic counseling available?

Genetic counseling for patients and families is not included with this program. However, PreventionGenetics genetic counselors are available to discuss results with ordering providers. Contact them at +1 715-387-0484 or [email protected].

Test details

  • ConditionDystrophic Epidermolysis Bullosa (DEB)
  • Test typeTargeted NGS Panel
  • Test code15787
  • Genes / markers
    27
  • Key genes / markersCOL7A1
  • SpecimenWhole blood•Saliva•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics
  • Program regionUnited States, Puerto Rico

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Prevention Genetics

Available in: United States, Puerto Rico

Order testPrint requisitionOrder collection kitLearn more

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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