General description
enthält:
Progressive Retinaatrophie (prcd-PRA)**, von Willebrand Erkrankung Typ 1 (vWD 1), D-Lokus d1 (Farbverdünnung), K-Lokus
French Water Dog (Barbet)
Order details
| Test number | 8783 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
D-locus d1 (dilution)
Test specifications
| Inheritance | Allelic series: D dominant over d1, d2 and d3 |
| Gene | MLPH |
| Mutation | G-A |
| Literature | OMIA:000031-9615 |
K-locus (test for KB allele only)
Test specifications
| Inheritance | Allelic series: KB dominant over ky |
| Gene | CBD103 |
| Mutation | INS |
| Literature | OMIA:001416-9615 |
von-Willebrand disease type I (vWD1)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Gene | VWF |
| Mutation | G-A |
| Literature | OMIA:001057-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
