Combination German Shorthaired Pointer

General description

includes:
Acral mutilation syndrome (AMS), Exfoliative cutaneous lupus erythematosus (ECLE), Junctional epidermolysis bullosa (JEB), von Willebrand disease type 2 (vWD 2)

Breeds

German Short-haired Pointing Dog

Order details
Test number8782
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Exfoliative cutaneous lupus erythematosus (ECLE)

Test specifications
Symptom complexdermatologic
Inheritanceautosomal recessive
Causalitycausally
GeneUNC93B1
MutationC-A
LiteratureOMIA:001609-9615

Junctional epidermolysis bullosa (JEB)

Test specifications
Symptom complexdermatologic
Inheritanceautosomal recessive
Causalitycausally
GeneLAMA3
MutationG-A
LiteratureOMIA:001677-9615

von-Willebrand disease type II (vWD 2)

Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GeneVWF
MutationT-G
LiteratureOMIA:001339-9615

Acral mutilation syndrome - English Cocker Spaniel, English Pointer, English Springer Spaniel, French Spaniel, German Shorthaired Pointer

In breeds such as German Shorthaired Pointer, English Pointer, English Cocker Spaniel, English Springer Spaniel, and French Spaniel, symptoms typically appear around four months of age, when puppies begin licking, biting, or injuring their paws and toes. Despite this, proprioception, motor function, and spinal reflexes remain unaffected. Some affected puppies only show pain insensitivity in the lower limbs without self-injury, making diagnosis more challenging.

Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onset4 months
Causalitycausally
GeneGDNF
MutationC-T
LiteratureOMIA:001514-9615