Members

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

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