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