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KRT14 Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

KRT14

Disorders:

• Epidermolysis Bullosa Simplex

Clinical Utility:

• Confirmation of a clinical diagnosis
• Recurrence risk calculation
• Prenatal diagnosis in families with an affected child and defined mutation

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

1682

Turnaround Time:

6-8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

List Price:

$1,100.00

Billing Information:

View Billing Policy

ICD Codes:

• 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)

REFERENCES

1. Rugg et al. J Invest Dermatol 2006
2. Koss-Harnes D et. al. 1997 Exp Dermatol. 6:41-8
3. Koss-Harnes D et. al. 2002 J Invest Information Sheet on Epidermolysis Bullosa Simplex Page 3 of 3 © GeneDx Revision Date: 12/10 Dermatol. 118:87-93
4. Pfendner EG, et al 2005. J Invest Dermatol 125:239-243
5. Jeřábková et al. British J of Derm 162:1004-1013, 2009
6. Arin et al. British J of Dermatol, 162:1365-1369, 2009
7. Smith F.2003. Am J Clin Dermatol. 4:347-64

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