PKDeep

Cub Hopital Erasme Lhub-Ulb

Institutional data

Institution: Cub Hopital Erasme Lhub-Ulb

Country: Belgium

Website: https://www.erasme.ulb.ac.be/


Department: Clinical Chemistry

Website: https://www.erasme.ulb.ac.be/

Department e-mail: secretariatand@LHUB-ULB.be

Department phone: 3225553427

Contact persons: Beatrice Gulbis

Department activity: Diagnostic

Institution's activity

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: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 12

Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)

Other RBC enzyme activity assays you performed: Hexokinase

Externalize PK activity quantitative assay: No


Perform PKLR genetic characterization: No

Externalize PKLR genetic characterization: Yes


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes