PKDeep
University Medical Center Utrecht
Institutional data
Institution: University Medical Center Utrecht
Country: Netherlands
Website: www.umcutrecht.nl
Department: Van Creveldkliniek
Website: http://www.umcutrecht.nl/nl/Ziekenhuis/Afdelingen/Van-Creveldkliniek/Contact
Department e-mail: VCK-secretariaat@umcutrecht.nl
Department phone: +31887558450
Contact persons: Eduard J. Van Beers, Marije Bartels
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Pediatrics, Adults
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Department: Clinical Chemistry And Hematology
Website: www.umcutrecht.nl
Department e-mail: secrlkch@umcutrecht.nl
Department phone: +31 88 75557604
Contact persons: Richard Van Wijk
Department activity: Diagnostic
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 30
Number of PKD pediatric patients (<18 years): 5
Number of PKD adult patients (≥ 18 years): 25
2018
Total number of PKD patients in follow-up: 28
Number of PKD pediatric patients (<18 years): 5
Number of PKD adult patients (≥ 18 years): 23
2017
Total number of PKD patients in follow-up: 33
Number of PKD pediatric patients (<18 years): 55
NNumber of PKD pediatric patients with genetic analysis performed: 5
Number of PKD pediatric patients with genetic analysis performed: 5
Number of PKD adult patients (≥ 18 years): 28
Number of PKD patients adults with genetic analysis performed: 28
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 121
Number of PK deficient cases diagnosed in the last 25 years from center's country: 65
Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 56
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Turn-around-time?: one week
Other RBC enzyme activity assays you performed: Adenosine deaminase, Aldolase, Bisphosphoglycerate mutase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, Triosephosphate isomerase
Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: Sanger, NGS
Turn-around-time?: 2-3 months
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes