General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon 2), Neonatal encephalopathy with seizures (NEWS), Progressive retinal atrophy*** (prcd-PRA), Progressive retinal atrophy(rcd4-PRA), von-Willebrand disease type I (vWD 1)
Labradoodle, Miniature Poodle, Poodle, Toy Poodle
Order details
Test number | 8621 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Neonatal encephalopathy with seizures (NEWS)
Test specifications
Symptom complex | neurological |
Inheritance | autosomal recessive |
Age of onset | from birth |
Causality | causally |
Gene | ATF2 |
Mutation | A-C |
Literature | OMIA:001471-9615 |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
Symptom complex | neuromuscular |
Inheritance | autosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected. |
Age of onset | ab 8 years |
Causality | High-risk factor |
Gene | SOD1 |
Mutation | G-A |
Literature | OMIA:000263-9615 |
Progressive retinal atrophy (rcd4-PRA)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Age of onset | 5-12 years |
Causality | causally |
Gene | PCARE |
Mutation | INS |
Literature | OMIA:001575-9615 |
von-Willebrand disease type I (vWD1)
Test specifications
Symptom complex | hematologic |
Inheritance | autosomal dominant with incomplete penetrance |
Causality | causally |
Gene | VWF |
Mutation | G-A |
Literature | OMIA:001057-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Causality | causally |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |