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Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
KRT5 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8377KRT581479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Epidermolysis Bullosa Simplex (EBS) (OMIM# #226730) is a skin separation disorder characterized by congenital blistering, skin atrophy, and skin fragility caused by minor physical trauma (Fine et al. J Am Acad Derm 58(6):931-950, 2008). Mutations in KRT5 cause epidermolysis bullosa simplex of the following subtypes: Dowling-Degos disease (OMIM#179850), epidermolysis bullosa simplex with migratory circinate erythema (OMIM#609352), epidermolysis bullosa simplex with mottled pigmentation (OMIM#131960), epidermolysis bullosa simplex, Dowling-Meara type (OMIM#131760), epidermolysis bullosa simplex, Koebner type (OMIM#131900), and epidermolysis bullosa simplex, Weber-Cockayne type (OMIM#131800).


Epidermolysis bullosa simplex is caused by mutations in KRT5 and KRT14, which are usually inherited in an autosomal dominant manner, however, a few recessive cases have also been reported. In the epidermis of the skin, keratin 5 protein partners with keratin 14 protein to form keratin intermediate filaments, which attach keratinocytes together and anchor the epidermis to underlying layers of skin. To date, 115 mutations have been documented in HGMD (Human Gene Mutation Database). The mutations in KRT5 cluster in exons 1, 5, and 7. The majority of the reported point mutations are missense (except for 5 nonsense mutations). About 15 small deletions, insertions and splicing mutations have been reported (Arin MJ et al. Br J Dermatol 162(6):1365-1369, 2010; Bolling MC et al. Br J Dermatol 164(3):637-644, 2011). No large deletions/duplication involving KRT5 have been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

KRT5 and KRT14 mutations account for ~75% of EBS cases diagnosed with skin biopsy (Arin MJ et al. Br J Dermatol 162(6):1365-1369, 2010; Bolling MC et al. Br J Dermatol 164(3):637-644, 2011 ). The percentage of cases due to each gene is approximately equal.

No large deletions/duplication involving KRT5 have been reported to date (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the KRT5 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with symptoms consistent with various types of epidermolysis bullosa simplex, and the family members of patients who have known KRT5 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KRT5.


Official Gene Symbol OMIM ID
KRT5 148040
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Ectodermal Dysplasia/Skin Fragility Syndrome via the PKP1 Gene
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene
Junctional Epidermolysis Bullosa via the COL17A1 Gene


  • Arin, M.J. et al. (2010). "Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.” Br J Dermatol 162(6):1365-1369. PubMed ID: 20199538
  • Bolling, M.C. et al. (2011). “Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.”  Br J Dermatol 164(3):637-644. PubMed ID: 21375516
  • Fine et al. (2008). "The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB." J Am Acad Derm 58(6):931-950. PubMed ID: 18374450
  • Human Gene Mutation Database (Bio-base).


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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