148,83 123,- excl. VAT

H443

Hereditary Nasal Parakeratosis (HNPK) is an inherited autosomal recessive skin disorder.

25 working days

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Hereditary Nasal Parakeratosis (HNPK) is an inherited autosomal recessive skin disorder. The disorder causes crusts and fissures on the nasul planum. A missense mutation in SUV39H2 is most likely the cause for HNPK. The SUV39H2 enzyme is involved in histone methylation and epigenetic silencing.

Clinical features

Clinical signs become generally apparent at 6-24 months of age and range from mild (dorsal nasal planum hyperkeratosis) to severe lesions (fissures and erosions).

Additional information

This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.

References

Pubmed ID: 24098150

Omia ID: 1373

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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