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H675

Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds.

20 días laborables

Especificaciones

Breeds

,

Gene

Chromosome

2

Mutation

c.972T>G

Mode of Inheritance

Autosómico recesivo

Organ

Specimen

Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido

Also known as

HNPK

Información específica de la prueba

Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds. It is caused by a genetic defect that disrupts normal keratinization of the nasal skin, leading to an abnormal accumulation of keratin on the nose. The disorder is caused by a mutation in the SUV39H2 gene and is inherited in an autosomal recessive manner.

Características clínicas

Affected dogs usually begin to show signs between 6 and 12 months of age, including a dry, rough, and thickened nasal surface (nose pad) with excessive scaling and crust formation. The nose may develop painful cracks or fissures, which can result in inflammation, redness, and occasional secondary infections. Changes in nose colour and sensitivity may also occur. Although HNPK does not affect overall health or life expectancy, it is a chronic, lifelong condition that can cause ongoing discomfort without appropriate management.

Información adicional

Esta prueba es realizada por un laboratorio externo. CombiBreed se encarga de la mediación entre usted como cliente y el laboratorio externo. En este caso, CombiBreed no se hace responsable del comportamiento del cliente y/o contratista.

Referencias

Pubmed ID: 24098150

Year published: 2013

Omia ID: 1373

Omia variant ID: 86

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2. Recoge la muestra de ADN

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3. Resultados

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