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Combination Continental Toy Spaniel

General description

includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon 2), Faktor VII deficiency, Neuroaxonal dystrophy (NAD), Progressive retinal atrophy (pap-PRA1) and von-Willebrand disease type I (vWD1)

Breeds

Papillon, Phalène

Order details
Test number8676
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Factor VII deficiency (F7)

Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GeneF7
MutationG-A
LiteratureOMIA:000361-9615

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

von-Willebrand disease type I (vWD1)

Test specifications
Symptom complexhematologic
Inheritanceautosomal dominant with incomplete penetrance
Causalitycausally
GeneVWF
MutationG-A
LiteratureOMIA:001057-9615

Progressive retinal atrophy (pap-PRA1)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Causalitycausally
GeneCNGB1
MutationINS
LiteratureOMIA:002723-9615