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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:
84311x1, 88271x10, 88291x1
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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