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Epidermolytic Hyperkeratosis via the KRT1 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
KRT1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8201KRT181479 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

Epidermolytic hyperkeratosis (also called bullous congenital ichthyosiform erythroderma) is a keratinization disorder characterized by erythema, epidermal blisters at birth, and progressive hyperkeratosis (thickening of the cornified layer of the skin). The prevalence is 1 in 100,000 to 300,000 newborns (Yang et al. 1996).


KRT1-related epidermolytic hyperkeratosis is usually inherited in an autosomal dominant manner. In addition, defects in KRT1 also cause other autosomal dominant conditions: Palmoplantar keratoderma, Ichthyosis, cyclic, with epidermolytic hyperkeratosis and Ichthyosis histrix, Curth-Macklin type. In the epidermis of the skin, keratin 1 protein partners with keratin 10 protein to form keratin intermediate filaments in the suprabasal layer of the epidermis (Blanpain and Fuchs 2009). To date, more than 50 unique pathogenic variants have been documented in in KRT1 (Human Gene Mutation Database). They include: missense (70%), splicing (~9%), small deletions and insertions (~20%), and 1 complex rearrangement involving KRT1. De novo pathogenic variants were seen in ~50% of reported cases. A recurrent pathogenic variant is c.1436T>C, p.Ile479Thr (HGMD; Virtanen et al. 2001; Arin et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

KRT1 and KRT10 pathogenic variants were identified in 9 and 19 of 28 studied unrelated patients (Arin et al. 2011).

Only 1 complex rearrangement involving KRT1 has been reported (Virtanen et al. 2001).

Testing Strategy

This test provides full coverage of all coding exons of the KRT1 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 epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix, Curth-Macklin type and the family members of patients who have known KRT1 pathogenic variants.


Official Gene Symbol OMIM ID
KRT1 139350
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Congenital Ichthyosis and Related Disorders Panel
Ichthyosis Bullosa, Siemens via the KRT2 Gene


  • Arin M.J. et al. 2011. The British Journal of Dermatology. 164: 442-7. PubMed ID: 21271994
  • Blanpain C., Fuchs E. 2009. Nature Reviews. Molecular Cell Biology. 10: 207-17. PubMed ID: 19209183
  • Human Gene Mutation Database (Bio-base).
  • Virtanen M. et al. 2001. Acta Derm Venereol. 81: 163-70. PubMed ID: 11558869
  • Yang J.M. et al. 1996. The Journal of Investigative Dermatology. 107: 439-41. PubMed ID: 8751983


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)

1) Select Test Type

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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