PKDeep
University Of Milano Bicocca; Asst-S.Gerardo Hospital
Institutional data
Institution: University Of Milano Bicocca; Asst-S.Gerardo Hospital
Country: Italy
Website: http://hsgerardo.org/
Department: Medical Genetics - Rare Disease Centre ; Pediatric Units
Website: http://hsgerardo.org/
Department e-mail: centromalattierare@emocromatosi.it
Department phone: +39 039 2339555; +39 039 2333513
Contact persons: Alberto Piperno; Nicoletta Masera
Department activity: Clinical management, Diagnostic
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: 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