PKDeep
Azienda Ospedaliera-Università Di Padova
Institutional data
Institution: Azienda Ospedaliera-Università Di Padova
Country: Italy
Website: http://www.sanita.padova.it/
Department: Department of Child and Maternal Health, Clinic of Ped Hematol.Oncol
Website: http://www.sanita.padova.it/
Department e-mail: oncoemato.ped@aopd.veneto.it
Department phone: 0039 049 821 8030
Contact persons: Raffaella Colombatti, Laura Sainati, Caterina Putti
Department activity: Clinical management
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 3
2018
Total number of PKD patients in follow-up: 3
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 5
Method used to perform PK activity assay?: Other
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