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White Sponge Nevus

White sponge nevus (WSN) is a rare autosomal dominant disorder of the non-cornifying squamous epithelia. The clinical hallmarks are white, soft, spongy, thickened plaques on both sides of the oral mucosa and tongue. The mucous membranes of the nose, esophagus, genitalia and rectum may also be involved. Light microscopic examination usually reveals epithelial thickening, parakeratosis, [...]

+ Mutation-specific testing   + Prenatal testing

White sponge nevus (WSN) is a rare autosomal dominant disorder of the non-cornifying squamous epithelia. The clinical hallmarks are white, soft, spongy, thickened plaques on both sides of the oral mucosa and tongue. The mucous membranes of the nose, esophagus, genitalia and rectum may also be involved. Light microscopic examination usually reveals epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes and compact aggregates of keratin intermediate filaments in the upper spinous layers. The disorder usually manifests with whitish mucosal plaques during infancy or early childhood and may be difficult to differentiate from mucosal yeast infections.

+ Mutation-specific testing   + Prenatal testing

Tests Available

KRT4, KRT13 Hot Spots

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
KRT13, KRT4
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. Identification of other affected family members
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
2131
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$880.00
Billing Information:
View Billing Policy
ICD Codes:
  • 528.6: Leukoplakia of oral mucosa, including tongue Leukokeratosis of oral mucosa Leukoplakia of: gingiva lips tongue
  • 623.1: Leukoplakia of vagina
  • 530.83: Esophageal leukoplakia

REFERENCES

  1. Witkop, CJ Jr. & Gorlin, R.J. Arch. Derm. 84: 762-771, 1961
  2. Terrinoni, A et al. J. Invest. Derm. 114: 388-391, 2000
  3. Rugg, EL et al. Nature Genet. 11: 450-452, 1995
  4. Richard, G et al. Nature Genet. 11: 453-455, 1995

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