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Dog DNA testing illustration

Epidermolytic Hyperkeratosis (EHK) and Ichthyosis – Norfolk Terrier

Code: H363

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Epidermolytic Hyperkeratosis (EHK) is a skin disorder that results in dark grey, flaky and fragile skin.

General information

Epidermolytic Hyperkeratosis (EHK) is a skin disorder that results in dark grey, flaky and fragile skin. This variant of the disease, found in the Norfolk Terrier, is caused by a recessive mutation to the gene KRT10.

Specifications

Breeds

Norfolk Terrier
Gene

KRT10
Chromosome

9
Mutation

c.1125+1G>T
Organ

Integumentary System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Affected puppies are born with fragile skin that is easily shifted or sloughed. In development, the skin becomes flaky or scaly and dark grey, mostly in intertriginous areas (where skin surfaces fold or rub together). However, there is no notable change to footpads, hair, claws or teeth.

References

Pubmed ID: 16029326

Year published: 2005

Omia ID: 1415

Omia variant ID:

Turnaround information

  • 15 working days