PKDeep
Hospital UZ Leuven
Institutional data
Institution: Hospital UZ Leuven
Country: Belgium
Website: www.uzleuven.be
Department: Pediatric Hematology
Department phone: +3216343834
Contact persons: Veerle Labarque, Chris Van Geet
Department activity: Clinical management
Type of patients in Follow-up: Pediatrics
Is transition to adulthood covered? Yes
Department: Adult Hematology
Department phone: +3216346880
Contact persons: Timothy Devos
Department activity: Clinical management
Type of patients in Follow-up: Adults
Department: Laboratory of Medicine
Department phone: +3216347024
Contact persons: Helena Claerhout
Department activity: Diagnostic
Diagnostic methodologies: Biochemical / Phenotyping
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 2
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
2018
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 2
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
2017
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 2
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients 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: 15
Number of PK deficient cases diagnosed in the last 25 years from center's country: 15
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)
Other RBC enzyme activity assays you performed: Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: NGS
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes