Institution: Hopital Necker
Country: France
Website: http://hopital-necker.aphp.fr
Department: Service de pédiatrie générale et pluridisciplinaire
Department phone: 33144494896
Contact persons: Mariane De Montalembert
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: 3
Number of PKD pediatric patients (<18 years): 3
NNumber of PKD pediatric patients with genetic analysis performed: 3
Number of PKD pediatric patients with genetic analysis performed: 3
Total number of PKD patients in follow-up: 3
Number of PKD pediatric patients (<18 years): 3
NNumber of PKD pediatric patients with genetic analysis performed: 3
Number of PKD pediatric patients with genetic analysis performed: 3
Total number of PKD patients in follow-up: 3
Number of PKD pediatric patients (<18 years): 3
NNumber of PKD pediatric patients with genetic analysis performed: 3
Number of PKD pediatric patients with genetic analysis performed: 3
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: No