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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, 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.