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.

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
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

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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