General description
includes (each 15 Euro patent fee for DM Exon2, EIC and HNPK): Centronuclear myopathy (CNM), Degenerative myelopathy (DM exon 2), Excercise induced collapse (EIC), Hereditary nasal parakeratosis (HNPK), Progressive retinal atrophy (prcd-PRA)***, Retinal dysplasia (OSD)*** and Skeletal dysplasia 2 (SD2) (dwarfism)
Labradoodle, Labrador Retriever
Order details
| Test number | 8627 |
| 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 |
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 |
Skeletal dysplasia 2 (Dwarfism) (SD2)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | COL11A2 |
| Mutation | C-G |
| Literature | OMIA:001772-9615 |
Retinal dysplasia (OSD) - Labrador Retriver
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Mutation | INS |
| Literature | OMIA:001522-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
