KRT17 Hot Spots

Forms and Documents

Test Details

KRT17
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2111
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81479x1
No
Yes
  • 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