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.

COL7A1 Del/Dup

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:
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: Epidermolysis Bullosa
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. 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.
  2. Varki et al., 2007 J Med Genet 44: 181-192.
  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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