PKDeep

Sao Joao Hospital Center

Institutional data

Institution: Sao Joao Hospital Center

Country: Portugal

Website: https://portal-chsj.min-saude.pt/


Department: Clinical Pathology Department

Department phone: +351225512100

Contact persons: Maria Jose Teles

Department activity: Diagnostic


Department: Clinical hemathology

Department phone: +351225512100

Department activity: Clinical management

Type of patients in Follow-up: Adults

Institution's activity

2024


2023


2022


2021


2020


2019

Total number of PKD patients in follow-up: 2


2018

Total number of PKD patients in follow-up: 2


2017

Total number of PKD patients in follow-up: 2

Number of PKD adult patients (≥ 18 years): 2


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: No

Externalize PKLR genetic characterization: Yes


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes