Polyzystische Nierenerkrankung (PKD2)
Polycystic kidney disease (PKD2)
General description
In the breed Siberian Cat and Neva Masquerade a genetic variant could be identified causing polycystic kidney disease (PKD2).
Breeds
Neva Masquerade, Siberian
Order details
Test number | 8938 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Test specifications
Symptom complex | nephrologic |
Inheritance | autosomal dominant |
Gene | PKD2 |
Mutation | DEL |
Literature | OMIA:002525-9685 |
Detailed description
In the breed Siberian Cat and Neva Masquerade a genetic variant could be identified causing polycystic kidney disease (PKD2), which is a progressive disease characterized by multiple fluid-filled cysts that form in the kidneys and leads to renal failure.