PKDeep

Erasmus Mc

Institutional data

Institution: Erasmus Mc

Country: Netherlands

Website: https://www.erasmusmc.nl/


Department: Pediatric Haemtology

Website: https://www.erasmusmc.nl/

Department e-mail: kinderhematologie@erasmusmc.nl

Department phone: 107040704

Contact persons: E. Huisman

Department activity: Clinical management, Diagnostic

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 4


2018

Total number of PKD patients in follow-up: 4


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 4

Method used to perform PK activity assay?: Other

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