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 (ARDS)

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