General description
includes (15 euro patent fee for DM exon 2): Centronuclear myopathy (CNM), Degenerative myelopathy (exon 2), Exercise induced collapse (EIC), Hereditary nasal parakeratosis (HNPK), Neonatal encephalopathy with seizures (NEWS), Skeletal dysplasia 2 (SD2), von-Willebrand disease type I (vWD 1), Progressive retinal atrophy*** (prcd-PRA) und Progressive retinal atrophy (rcd4-PRA)
Labradoodle
Order details
| Test number | 8743 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Exercise induced collapse (EIC)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | DNM1 |
| Mutation | C-A |
| Literature | OMIA:001466-9615 |
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 |
Hereditary nasal parakeratosis (HNPK) - Labrador Retriever
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | 6-12 months |
| Causality | causally |
| Gene | SUV39H2 |
| Mutation | A-C |
| Literature | OMIA:001373-9615 |
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 |
Skeletal dysplasia 2 (Dwarfism) (SD2)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | COL11A2 |
| Mutation | C-G |
| Literature | OMIA:001772-9615 |
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 |
