General description
enthält: Collie Eye Anomalie* (CEA) (Partnerlabor), Glaukom und Goniodysgenesie (GG), Imerslund-Gräsbeck Syndrom (IGS), MDR1-Gendefekt (Ivermectin-Überempfindlichkeit), Neuronale Ceroid Lipofuszinose (NCL), Sensorische Neuropathie (SN), Trapped Neutrophil Syndrom (TNS), Raine Syndrome
Border Collie
Order details
| Test number | 8626 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
Sensory neuropathy (SN)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2-7 months |
| Causality | causally |
| Gene | FAM134B |
| Mutation | COMPLEX |
| Literature | OMIA:002032-9615 |
Trapped neutrophil syndrome (TNS)
Test specifications
| Symptom complex | immunological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | VPS13B |
| Mutation | DEL |
| Literature | OMIA:001428-9615 |
Collie eye anomaly (CEA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | NHEJ1 |
| Mutation | COMPLEX |
| Literature | OMIA:000218-9615 |
Raine syndrome
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | FAM20C |
| Mutation | G-A |
| Literature | OMIA:002015-9615 |
MDR1 gene variant (Ivermectin hypersensitivity)
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal recessive; however, carriers with hypersensitivity can also be expected |
| Causality | causally |
| Gene | ABCB1 |
| Mutation | DEL |
| Literature | OMIA:001402-9615 |
