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