General description
includes: Genetic blood group, Pyruvate kinase deficiency (PK), Glycogen storage disease type IV (GSD4) and the coat colour amber
Norwegian Forest Cat
Order details
| Test number | 8720 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Amber
Test specifications
| Inheritance | Allelische Reihe: E dominant über e |
| Gene | MC1R |
| Mutation | G-A |
| Literature | OMIA:001199-9685 |
Pyruvate kinase deficiency (PK)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA:000844-9685 |
Glycogen storage disease type IV (GSD4)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 5 months |
| Causality | causally |
| Gene | GBE1 |
| Mutation | COMPLEX |
| Literature | OMIA:000420-9685 |
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 |
