Combination English Springer Spaniel

General description

includes: Acral mutilation syndrome (AMS), Dyserythropoietic anemia and myopathy (DAMS), Familial nephropathy (FN), Hypomyelination / Shaking Puppy Syndrome (SPS), Fucosidosis, Phosphofructokinase deficiency (PFKD), Progressive retinal atrophy (cord1-PRA)

Breeds

English Springer Spaniel

Order details
Test number8660
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Fucosidosis

Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onset18 months - 4 years
Causalitycausally
GeneFUCA1
MutationDEL
LiteratureOMIA:000396-9615

Acral mutilation syndrome (ARDS)

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

Progressive retinal atrophy (cord1/crd4-PRA)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Age of onsetab 6 months
Causalityscientifically not clearly clarified
GeneRPGRIP1
MutationINS
LiteratureOMIA:001432-9615