PKDeep
A.O.O.R. Villa Sofia Cervello
Institutional data
Institution: A.O.O.R. Villa Sofia Cervello
Country: Italy
Website: www.ospedaliriunutipalermo.it
Department: U.O.C. Di Ematologia Per Le Malattie Rare Del Sangue E Degli Organi Ematopoietici
Website: www.ospedaliriunutipalermo.it
Department e-mail: ematologia2@ospedaliriunitipalermo.it
Department phone: 091/6802012
Contact persons: Pitrolo Lorella
Department activity: Clinical management, Diagnostic
Institution's activity
2024
2023
2022
2021
2020
2019
2018
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: No
Method used to perform PK activity assay?:
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: Sanger
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes