Combination Australian Shepherd and Miniature American Shepherd

General description

includes (15 Euro patent fee for DM Exon2): Collie eye anomaly (CEA)**, Degenerative myelopathy (DM exon 2), Hereditary cataract (HSF4), MDR1-gene variant (MDR1), Brachyuria (stumpy tail), Neuronal ceroid lipofuscinosis (NCL) and Progressive retinal atrophy (prcd-PRA)***

Breeds

Australian Shepherd, Miniature American Shepherd

Order details
Test number8624
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Hyperuricosuria (HUU/SLC)

Test specifications
Symptom complexurological
Inheritanceautosomal recessive
Causalitycausally
GeneSLC2A9
MutationG-T
LiteratureOMIA:001033-9615

Degenerative myelopathy exon 2 (DM exon 2)

Test specifications
Symptom complexneuromuscular
Inheritanceautosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected.
Age of onsetab 8 years
CausalityHigh-risk factor
GeneSOD1
MutationG-A
LiteratureOMIA:000263-9615

Brachyuria (stumpy tail)

Test specifications
Symptom complexskeletal
Inheritanceautosomal dominant
Age of onsetfrom birth
Causalitycausally
GeneTBXT
MutationG-C
LiteratureOMIA:000975-9615

Collie eye anomaly (CEA)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Age of onsetfrom birth
Causalitycausally
GeneNHEJ1
MutationCOMPLEX
LiteratureOMIA:000218-9615

MDR1 gene variant (Ivermectin hypersensitivity)

Test specifications
Symptom complexmetabolic
Inheritanceautosomal recessive; however, carriers with hypersensitivity can also be expected
Causalitycausally
GeneABCB1
MutationDEL
LiteratureOMIA:001402-9615

Progressive retinal atrophy (prcd-PRA)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Causalitycausally
GenePRCD
MutationC-T
LiteratureOMIA:001298-9615