General description
includes: Genetic blood groupXXL, Mucopolysaccharidosis type VI (MPS6)XXL, Primary congenital glaucoma (PCG)XXL, Gangliosidosis (GM1)XXL and Progressive retinal atrophy (rdAc-PRA)XXL
Oriental Longhair, Oriental Shorthair (OSH), Siamese
Order details
| Test number | 8722 |
| Sample material | 0.5 ml EDTA blood, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Primary congenital glaucoma (PCG)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | LTBP2 |
| Mutation | INS |
| Literature | OMIA:002017-9685 |
Gangliosidosis (GM1)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2 months |
| Causality | causally |
| Gene | GLB1 |
| Mutation | C-G |
| Literature | OMIA:000402-9685 |
Mucopolysaccharidosis type VI (MPS6)
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ARSB |
| Mutation | A-G, C-T |
| Literature | OMIA:000666-9685 |
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 |
