PKDeep

Hospital Sant Joan De Déu, Barcelona

Institutional data

Institution: Hospital Sant Joan De Déu, Barcelona

Country: Spain

Website: https://www.sjdhospitalbarcelona.org/es


Department: Hematology

Website: https://www.sjdhospitalbarcelona.org/es

Department e-mail: eabrantes@sjdhospitalbarcelona.org

Department phone: +34 932532100 (ext 71709)

Contact persons: Anna Ruiz

Department activity: Clinical management, Diagnostic

Institution's activity

2024


2023


2022


2021


2020


2019

Total number of PKD patients in follow-up: 1


2018

Total number of PKD patients in follow-up: 1


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: Yes

Method used for PKLR genetic characterization: NGS


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes