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COL7A1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
COL7A1
Disorders:
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:
162
Turnaround Time:
7-8 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: Epidermolysis Bullosa
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Varki et al., 2007 J Med Genet 44: 181-192.
  2. Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Principles and Practice of Medical Genetics. 4th ed. London: Churchill-Livingston; 2002;3810-3897.
  3. Fine J-D, et al. J Am Acad Dermatol 2000;42:1051-106
  4. Rouan F, et al. 1998 J Invest Dermatol.111:1210.
  5. Jarvikallio A et al. 1997 Hum Mutat.10:338.

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