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

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