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 number8938
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexnephrologic
Inheritanceautosomal dominant
GenePKD2
MutationDEL
LiteratureOMIA: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.