General description
includes: Collie eye anomaly (CEA)**, Glaucoma and goniodysgenesis (GG), Imerslund-Gräsbeck syndrome (IGS), MDR1-gene defect (MDR1), Neuronal ceroid lipofuscinosis (NCL) Raine syndrome, Trapped neutrophil syndrome (TNS), Sensory neuropathy (SN)
Border Collie
Order details
| Test number | 8626 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
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 |
