General description
includes: Cystinuria, Hyperuricosuria (HUU/SLC), Macular corneal dystrophy (MCD), Narcolepsy, Obesity, Pyruvate kinase deficiency (PK), Stargardt disease (retinal degeneration), X-linked myopathy (XL-MTM)
Labradoodle, Labrador Retriever
Order details
| Test number | 8628 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Hyperuricosuria (HUU/SLC)
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SLC2A9 |
| Mutation | G-T |
| Literature | OMIA:001033-9615 |
Macular corneal dystrophy (MCD)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 4-6 years |
| Causality | causally |
| Gene | LOC489707 |
| Mutation | C-A |
| Literature | OMIA:002071-9615 |
Stargardt disease (retinal degeneration) (STGD)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ABCA4 |
| Mutation | INS |
| Literature | OMIA:002179-9615 |
