General description
includes: Genetic blood group, Progressive retinal atrophy (rdAc-PRA), Progressive retinal atrophy (b-PRA) and Pyruvate kinase deficiency (PK)
Bengal (Leopard cat)
Order details
| Test number | 8717 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Progressive retinal atrophy (b-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 7 weeks |
| Causality | causally |
| Gene | KIF3B |
| Mutation | C-T |
| Literature | OMIA:002267-9685 |
Pyruvate kinase deficiency (PK)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA:000844-9685 |
Progressive retinal atrophy (rdAc-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 1.5-2 years |
| Causality | causally |
| Gene | CEP290 |
| Mutation | A-C |
| Literature | OMIA:001244-9685 |
Genetic blood group
Test specifications
| Symptom complex | hematologic |
| Inheritance | Allelische Reihe nach Dominanz: N>c>b |
| Causality | causally |
| Gene | CMAH |
| Mutation | COMPLEX |
| Literature | OMIA:000119-9685 |
