PKDeep

Aou S. Luigi Gonzaga

Institutional data

Institution: Aou S. Luigi Gonzaga

Country: Italy

Website: http://www.sanluigi.piemonte.it/reparti/microcitemie/


Department: Division of Pediatrics & Hemoglobinopathies Centre

Website: http://www.sanluigi.piemonte.it/reparti/microcitemie/

Department e-mail: microcitemie@sanluigi.piemonte.it

Department phone: +39 011 9026032

Contact persons: Antonio Piga

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Pediatrics, Adults

Institution's activity

2024


2023


2022


2021


2020


2019

Total number of PKD patients in follow-up: 2

Number of PKD adult patients (≥ 18 years): 1


2018

Total number of PKD patients in follow-up: 2


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: Yes