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Palmoplantar Keratoderma, Epidermolytic via the KRT9 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
8215 KRT9 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8215KRT981479 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

Palmoplantar keratoderma, epidermolytic is a keratinization disorder characterized by hyperkeratosis on the surface of palms and soles, which can be caused by defects in KRT1 and KRT9. Patients can present diffused yellowish keratoderma with erythematous borders on palms and soles shortly after birth (Fuchs-Telem et al. 2013).


KRT9 related Palmoplantar keratoderma, epidermolytic is inherited in an autosomal dominant manner. Keratin 9 protein is an intermediate filament chain expressed in the epidermis of palms and soles. To date, approximately 30 unique pathogenic variants have been documented. Although the majority of them are missense (88%), nonsense, splicing and in-frame deletion/duplications have also been reported. No large deletions/duplications have been reported (Human Gene Mutation Database; Reis et al. 1994). A recurrent pathogenic variant is c.487C >T (p. Arg163Trp) (Reis et al. 1994).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity is currently difficult to estimate due to limited reports in the medical literature regarding pathogenic variants the KRT9 gene (Human Gene Mutation Database). Analytical sensitivity may be high as all reported pathogenic variants are expected to be detected by Sanger sequencing.

No large deletions/duplications have been reported in KRT9 (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the KRT9 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 Palmoplantar keratoderma, epidermolytic and the family members of patients who have known KRT9 pathogenic variants.


Official Gene Symbol OMIM ID
KRT9 607606
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Palmoplantar Keratoderma, Epidermolytic AD 144200

Related Test

Congenital Ichthyosis and Related Disorders Panel


  • Fuchs-Telem D. et al. 2013. Clinical and Experimental Dermatology. 38: 189-92: PubMed ID: 23397986
  • Human Gene Mutation Database (Bio-base).
  • Reis A. et al. 1994. Nature Genetics. 6: 174-9. PubMed ID: 7512862


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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View Ordering Instructions

1) Select Test Method (Platform)

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.
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