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

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