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