General description
includes the following tests: Macrothrombocytopenia (MTC), Prekallikrein deficiency (KLK), Progressive retinal atrophy (JPH2-PRA), Robinow-like-syndrome (DVL2)
Shih Tzu
Order details
| Test number | 8835 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Prekallikrein deficiency (KLK)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | KLKB1 |
| Mutation | A-T |
| Literature | OMIA:000819-9615 |
Robinow-like syndrome (DVL2)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive with incomplete penetrance (see text) |
| Causality | associated |
| Gene | DVL2 |
| Mutation | DEL |
| Literature | OMIA:002186-9615 |
Progressive retinal atrophy (JPH2-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5-9 years |
| Causality | causally |
| Gene | JPH2 |
| Mutation | A-C |
| Literature | OMIA:000830-9615 |
