Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Hailey-Hailey disease

Hailey-Hailey Disease (HHD) is a rare inherited skin disorder due to disturbed cell adhesion (acantholysis) in the upper layers of the epidermis. Hailey-Hailey disease usually develops in adolescence with a peak of onset between the second and fourth decade of life. Skin lesions begin with transient blistering, rapidly evolving into crusted erosions and scaling, fissured […]

Hailey-Hailey Disease (HHD) is a rare inherited skin disorder due to disturbed cell adhesion (acantholysis) in the upper layers of the epidermis. Hailey-Hailey disease usually develops in adolescence with a peak of onset between the second and fourth decade of life. Skin lesions begin with transient blistering, rapidly evolving into crusted erosions and scaling, fissured plaques. Primarily affected are the large skin folds (e.g. armpits, neck) and intertriginous areas (e.g. under the breasts, groin). The skin problems are exacerbated by trauma and irritation, for example due to heat, sweating, and friction. The disorder follows a chronic, recurrent course, often leading to discomfort, pain, and limitation of physical activity.

Tests Available

ATP2C1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ATP2C1
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members, including pre-symptomatic testing
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
206
Turnaround Time:
8-9 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 694.5: Pemphigoid Benign pemphigus NOS, Bullous pemphigoid, Herpes circinatus bullosus, Senile dermatitis herpetiformis
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Cheng TS et al., JAEDV 24:1202-1206, 2010.
  2. Zhang F et al. Dermatology. 2007;215(4):277-83.
  3. Hamada T et al. J Dermatol Sci. 2008 Jul;51(1):31-6.
  4. Foggia and Hovnanian Am J Med Genet (Part C) 131C: 20-31, 2004.
  5. Dobson-Stone C. et al. J Invest Dermatol 118:338-343, 2002.
  6. Ikeda S. et al. J Invest Dermatol 117:1654-1656, 2001.
  7. Sudbrak R. et al. Hum Mol Genet 9:1131-1140, 2000.
  8. Hu Z. et al. Nat Genet 24:61-65, 2000.

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