Institution: Porto Hospital Center
Country: Portugal
Website: https://www.chporto.pt/
Department: Hematology
Website: https://www.chporto.pt/
Department phone: +351222 077 500
Contact persons: Maria Jose Teles, Graça Porto
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Adults
Department: Pediatric
Website: https://www.chporto.pt/
Department phone: +35122 207 75 00
Department activity: Clinical management
Type of patients in Follow-up: Pediatrics
Is transition to adulthood covered? Yes
Total number of PKD patients in follow-up: 1
Number of PKD adult patients (≥ 18 years): 1
Total number of PKD patients in follow-up: 1
Number of PKD adult patients (≥ 18 years): 1
Total number of PKD patients in follow-up: 1
Number of PKD adult patients (≥ 18 years): 1
Perform PK enzyme activity assay: No
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: No
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes