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Combination Spanish Waterdog

General description

includes (15 Euro patent fee for DM Exon2): Brachyuria, Congenital hypothyroidism (CHG), Degenerative myelopathy (DM) exon 2, Neuroaxonal dystrophy (NAD), Progressive retinal atrophy (eo-PRA), Progressive retinal atrophy*** (prcd-PRA)

Breeds

Spanish Water Dog

Order details
Test number8287
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

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

Progressive retinal atrophy (prcd-PRA)

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