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Dog DNA testing illustration

Epidermolysis Bullosa Simplex (EBS)

Code: H884

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. This variant, known as Epidermolysis Bullosa Simplex, is found in the Eurasier, and is caused by a recessive mutation to the gene PLEC.

Specifications

Breeds

Eurasier
Gene

PLEC
Chromosome

13
Mutation

c.3947G>A
Organ

Integumentary System
Specimen

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

Autosomal Recessive

Clinical features

Affected puppies present within days after birth with reduced body size, underweight and widespread formation of ulcers on the lips, tongue, nose, paws and abdomen. Due to poor quality of life, euthanasia is likely to be necessary.

References

Pubmed ID: 27878870

Year published: 2016

Omia ID: 2080

Omia variant ID:

Turnaround information

  • 15 working days