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Horse DNA testing illustration

Junctional Epidermolysis Bullosa (JEB, LAMA3-related) – Horse

Code: P877

74,72 €

Sample details

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

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Short description

Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma.

General information

Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma. Epitheliogenesis imperfecta (EI) is a term that has been used to describe congenital epithelial defects in animals.

Specifications

Breeds

American Saddlebred

Gene

LAMA3

Chromosome

8

Organ

Integumentary System

Specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Also known as

Epitheliogenesis imperfecta

Clinical features

Affected horses can show lesions at birth, have erosions, ulceration and atrophic skin, with pigmentation and alopecia on the face, trunk and extremities, together with dystrophic nails. The characteristic blistering of the skin and mucous membranes is caused by tissue separation within the lamina lucida of the basement membrane zone at the dermal–epidermal junction. Affected animals may die soon after birth as a result of lack of ability to suckle.

References

Pubmed ID: 19016681

Year published: 2009

Omia ID: 1677

Omia variant ID:

Turnaround information

  • 15 working days