Institution: Sao Joao Hospital Center
Country: Portugal
Website: https://portal-chsj.min-saude.pt/
Department: Clinical Pathology Department
Department phone: +351225512100
Contact persons: Maria Jose Teles
Department activity: Diagnostic
Department: Clinical hemathology
Department phone: +351225512100
Department activity: Clinical management
Type of patients in Follow-up: Adults
Total number of PKD patients in follow-up: 2
Total number of PKD patients in follow-up: 2
Total number of PKD patients in follow-up: 2
Number of PKD adult patients (≥ 18 years): 2
Perform PK enzyme activity assay: No
Method used to perform PK activity assay?:
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes