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.

KRT17 Hot Spots

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
KRT17
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
2111
Turnaround Time:
4-6 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:
  • 759.39: Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Kimonis et al. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol. 1994 Dec;103(6):764-9
  2. Sprecher et al. Evidence for function of the variable keratin tail domain emerging from a mutation causing Ichthyosis Hystrix Curth-Macklin. J Invest Dermatol, 116: 411- 419, 2000
  3. Whittock et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May;118(5):838-44

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