General description
includes (each 15 Euro patent fee for EIC and HNPK): Centronuclear myopathy (CNM), Excercise induced collapse (EIC), Hereditary nasal parakeratosis (HNPK), Progressive retinal atrophy (prcd-PRA), Retinal dysplasia (OSD), Stargardt disease (retinal degeneration) 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 |
Stargardt disease (retinal degeneration) (STGD)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ABCA4 |
| Mutation | INS |
| Literature | OMIA:002179-9615 |
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 |
