Members

CHU Liege

Institutional data

Institution: CHU Liege

Country: Belgium

Website: www.chuliege.be


Department: Human Genetics

Website: www.chuliege.be

Department e-mail: genetique.humaine@ulg.ac.be

Department phone: +32 43668145

Contact persons: François Boemer

Department activity: Diagnostic

Diagnostic methodologies: Biochemical / Phenotyping


Department: Hematology

Website: www.chuliege.be

Department e-mail: Alice.Detournay@chuliege.be

Department phone: +32 43667201

Contact persons: Yves Beguin

Department activity: Clinical management

Type of patients in Follow-up: Adults

Institution's activity

2022


2021


2020

Total number of PKD patients in follow-up: 1

Number of PKD adult patients (≥ 18 years): 1

Number of PKD patients adults with genetic analysis performed: 1


2019

Total number of PKD patients in follow-up: 1

Number of PKD adult patients (≥ 18 years): 1

Number of PKD patients adults with genetic analysis performed: 1


2018

Total number of PKD patients in follow-up: 1

Number of PKD adult patients (≥ 18 years): 1

Number of PKD patients adults with genetic analysis performed: 1


2017

Total number of PKD patients in follow-up: 1

Number of PKD adult patients (≥ 18 years): 1

Number of PKD patients adults with genetic analysis performed: 1


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 2

Number of PK deficient cases diagnosed in the last 25 years from center's country: 2

Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 0

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

Turn-around-time?: 7 days

Other RBC enzyme activity assays you performed: Adenosine deaminase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Hexokinase

Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).

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