Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

COL17A1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
COL17A1
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. Recurrence risk calculation
  • 3. Prenatal diagnosis in families with an affected child and defined mutation
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Pasmooij et al 2004 l Br J Dermatol. 151:669-674
  2. Varki et al 2006 J Medical Genetics 43:641-652
  3. Nakamura et al 2006 Int J Mol Med. 18(2):333-337
  4. Murrell et al 2007 J Invest Dermatol 127(7):1772-1775

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