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