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Dog DNA testing illustration

Junctional Epidermolysis Bullosa (JEB, LAMA3-related) – German Pointer

Code: H861

74,72 €

Sample details

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

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Short description

Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.

General information

Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is usually required for affected dogs. The specific version of the disease analysed in this test, known as Junctional Epidermolysis Bullosa (JEB), is caused by a recessive mutation to the gene LAMA3. This variant is found in the German Shorthaired Pointer. A closely related variant is also found in the Australian Cattle Dog.

Specifications

Breeds

German longhaired pointer, German Shorthaired Pointer
Gene

LAMA3
Chromosome

7
Mutation

c.4818+207ins6.5kb
Organ

Integumentary System
Specimen

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

Autosomal Recessive

Clinical features

Affected dogs show general symptoms of skin fragility, including painful blistering of the skin and mucous membranes, as well as the formation of ulcers on the paw pads.

References

Pubmed ID: 15737193

Year published: 2005

Omia ID: 1677

Omia variant ID:

Turnaround information

  • 15 working days