PKDeep
Università Cattolica del Sacro Cuore - Fondazione Policlinico Gemelli
Institutional data
Institution: Università Cattolica del Sacro Cuore - Fondazione Policlinico Gemelli
Country: Italy
Website: www.unicatt.it - www.policlinicogemelli.it
Department: Department of Hematology
Website: www.unicatt.it - www.policlinicogemelli.it
Department e-mail: ist.ematologia@unicatt.it
Department phone: 390630154968
Contact persons: Bianca Maria Ricerca, Luciana Teofili
Department activity: Clinical management
Institution's activity
2024
2023
2022
2021
2020
Total number of PKD patients in follow-up: 2
2019
Total number of PKD patients in follow-up: 2
2018
Total number of PKD patients in follow-up: 2
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 3
Method used to perform PK activity assay?: Commercial kit
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: No