General description
includes: genetic blood group, Hypotrichosis, Mucopolysaccharidosis type VI (MPS6), polycystic kidney disease (PKD) and progressive retinal atrophy (pd-PRA)
Birman (Sacred cat of Burma)
Order details
| Test number | 8716 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Progressive retinal atrophy (pd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 5 weeks |
| Causality | causally |
| Gene | AIPL1 |
| Mutation | C-T |
| Literature | OMIA:001222-9685 |
Hypotrichosis and short life expectancy
Test specifications
| Symptom complex | systemic |
| Age of onset | from birth |
| Causality | causally |
| Gene | FOXN1 |
| Mutation | DEL |
| Literature | OMIA:001949-9685 |
Polycystic kidney disease (PKD)
Test specifications
| Symptom complex | nephrological |
| Age of onset | 8 months |
| Causality | causally |
| Gene | PKD1 |
| Mutation | C-A |
| Literature | OMIA:000807-9685 |
Mucopolysaccharidosis type VI (MPS6)
Test specifications
| Symptom complex | systemic |
| Causality | causally |
| Gene | ARSB |
| Mutation | A-G, C-T |
| Literature | OMIA:000666-9685 |
Genetic blood group
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | CMAH |
| Mutation | COMPLEX |
| Literature | OMIA:000119-9685 |
