Epidermolysis bullosa [45 genes]

The term hereditary epidermolysis bullosa includes a heterogeneous group of disorders of genetic cause. They are characterized by predisposition of blisters formation in the event of trauma and worsening of the disease with warm temperatures. However, they differ notably in severity, prognosis, clinical and histological findings, as well as inheritance patterns. They can be classified into 3 large groups:

  • Epidermolysis bullosa simplex.
  • Junctional epidermolysis bullosa.
  • Dystrophic epidermolysis bullosa.

The Epidermolysis bullosa service includes the simultaneous analysis of the genes related to this group of diseases. Therefore, when there is an early clinical suspicion of the disease, it is recommended to obtain diagnostic and prognostic information for the patient and the patient´s family.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of lesions or their severity in this clinical context.

If there is an early suspicion of any of these blistering diseases of a genetic cause, it is recommended to request this service to obtain an early diagnosis.

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Epidermolysis bullosa

"*" indicates required fields

This field is for validation purposes and should be left unchanged.
Consentimiento*
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313137

Updated (dd/mm/yy): 14/10/2025

Epidermolysis bullosa: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of genes with moderate, high, and low evidence related to epidermolysis bullosa and those associated with differential diagnosis entities.

  • ATP2A2
  • ATP2C1
  • CAST
  • CD151
  • CDSN
  • COL17A1
  • COL7A1
  • CSTA
  • CTSB
  • DSC3
  • DSG1
  • DSG3
  • DSP
  • DST
  • EXPH5
  • FERMT1
  • FLG2
  • IKBKG
  • ITGA3
  • ITGA6
  • ITGB4
  • JUP
  • KLHL24
  • KRT1
  • KRT10
  • KRT14
  • KRT16
  • KRT17
  • KRT2
  • KRT5
  • KRT6A
  • KRT6B
  • KRT6C
  • LAMA3
  • LAMB3
  • LAMC2
  • MMP1
  • PKP1
  • PLEC
  • PLOD3
  • SERPINB8
  • SLC39A4
  • SPINK5
  • TGM5
  • TUFT1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

  • Epidermolysis bullosa simplex.
  • Junctional epidermolysis bullosa.
  • Dystrophic epidermolysis bullosa.

References

  1. Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH. Epidermolysis bullosa. Nat Rev Dis Primers. 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163.
  2. So JY, Teng J. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2022 Aug 4]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
  3. Pfendner EG, Lucky AW. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [Updated 2018 Sep 13]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1304/
  4. Pfendner EG, Lucky AW. Junctional Epidermolysis Bullosa. 2008 Feb 22 [Updated 2018 Dec 20]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1125/
  5. Pfendner EG, Lucky AW. Epidermolysis Bullosa with Pyloric Atresia. 2008 Feb 22 [Updated 2017 Sep 7]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1157/
  6. Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome. 2016 Mar 3 [Updated 2022 Jan 6]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK349072/

Basic information about cookies

Welcome to the basic information about cookies on the website under the responsibility of the entity:

HEALTH IN CODE SL

A cookie is a small information file that is stored in your computer, smartphone or tablet every time you visit our website. Some cookies are ours (we will call them our own cookies) and others belong to external companies that provide services for our website.

Cookies can be of various types: technical cookies are necessary for our website to function; they do not require your permission and are the only ones we have enabled by default.

The other cookies are used to improve our website, to personalise it based on your preferences, or to be able to show you advertising tailored to your searches, preferences, and personal interests. You can accept all these cookies by clicking on the ACCEPT button or REFUSE button below.

For more information, please consult the COOKIES POLICY on our website.