General description
includes: Hereditary ataxia (HA), Neuronal ceroid lipofuscinosis (NCL) and Progressive retinal atrophy (rcd4-PRA)
Gordon Setter
Detailed description
The following tests are included in this combination: Hereditary ataxia (HA), Neuronal ceroid lipofuscinosis (NCL), Progressive retinal atrophy (rcd4-PRA)
Progressive retinal atrophy (rcd4-PRA)
Order details
| Test number | 8741 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5-12 years |
| Causality | causally |
| Gene | PCARE |
| Mutation | INS |
| Literature | OMIA:001575-9615 |
Hereditary Ataxia (HA) - Old English Sheepdog, Gordon Setter
In the breeds Old English Sheepdog and Gordon Setter first symptoms appear within the age of 5 months to 4 years. A variant in the RAB24 gene was identified to cause HA in these breeds.
Order details
| Test number | 8741 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 5 months - 4 years |
| Causality | causally |
| Gene | RAB24 |
| Mutation | A-C |
| Literature | OMIA:001913-9615 |
Neuronal ceroid lipofuscinosis (NCL)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8741 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CTSD |
| Mutation | C-T |
| Literature | OMIA:001506-9615 |
