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Epidermolysis Bullosa Simplex (EBS) via the KRT14 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
8375 KRT14 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8375KRT1481479 81479(x2) $890 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.

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 backbone).

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

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Epidermolysis Bullosa is a highly heterogeneous skin separation disorder characterized by congenital blistering, skin atrophy, and skin fragility caused by minor mechanical trauma (Fine et al. J Am Acad Derm 58(6):931-950, 2008). Mutations in the KRT14 gene cause epidermolysis bullosa simplex which includes the following subtypes: dermatopathia pigmentosa reticularis (OMIM#125595), epidermolysis bullosa simplex, Dowling-Meara type (OMIM#131760), epidermolysis bullosa simplex, Koebner type (OMIM#131900), epidermolysis bullosa simplex, recessive (OMIM#601001), Naegeli-Franceschetti-Jadassohn syndrome (OMIM#161000) and epidermolysis bullosa simplex, Weber-Cockayne type (OMIM#131800).

Genetics

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. Keratin 14 protein partners with keratin 5 protein to form keratin intermediate filaments, which attach keratinocytes together and anchor the epidermis to underlying layers of skin. To date, about 100 KRT14 causative mutations have been documented in HGMD (Human Gene Mutation Database). The common mutations in KRT14 cluster in exons 1, 4, and 6. Mutations include missense (68%), nonsense (10%), small deletions/ insertions (16%) and splicing mutations (3%). Only two large insertions and one large genomic rearrangement involving KRT14 have been reported (Arin, M.J. et al. Br J Dermatol 162(6):1365-1369, 2010; Bolling, M.C. et al. Br J Dermatol 164(3):637-644, 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

KRT5 and KRT14 mutations account for ~75% of EBS cases diagnosed with skin biopsy. The percentage of cases due to each gene is approximately equal. Only two large insertions and one large genomic rearrangement involving KRT14 have been reported (Arin, M.J. et al. Br J Dermatol 162(6):1365-1369, 2010; Bolling, M.C. et al. Br J Dermatol 164(3):637-644, 2011).

Testing Strategy

This test provides full coverage of all coding exons of the KRT14 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 KRT14 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KRT14.

Gene

Official Gene Symbol OMIM ID
KRT14 148066
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Ectodermal Dysplasia/Skin Fragility Syndrome via the PKP1 Gene
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene
Junctional Epidermolysis Bullosa via the COL17A1 Gene

Citations

  • 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/Specimens

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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