PKDeep
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
2024
2023
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