PKDeep

Sanquin Diagnostic Sevices

Institutional data

Institution: Sanquin Diagnostic Sevices

Country: Netherlands

Website: https://www.sanquin.nl/en/products-services/


Department: Red Blood Cell Diagnostics

Website: https://www.sanquin.nl/en/products-services/

Department e-mail: m.veldthuis@sanquin.nl

Department phone: 31 20 5123341

Contact persons: Rob van Zwieten, Martijn Veldthuis

Department activity: Diagnostic

Diagnostic methodologies: Biochemical / Phenotyping, Genetics

Institution's activity

2024


2023


2022


2021


2020


2019


2018


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 40

Number of PK deficient cases diagnosed in the last 25 years from center's country: 30

Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 5

Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)

Turn-around-time?: 48 h

Other RBC enzyme activity assays you performed: Glucose-6-phosphate dehydrogenase, Gluthathione reductase

Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980),Other quantitative methods,Semi-quantitative methods. (Cytofluorometry to quantify the number of G6PD sufficient and G6PD deficient cells. The test is quantitative for the number of cells and semi quantitative for the G6PD activity. The test is applied to check for skewing in heterozygous females.)

Externalize PK activity quantitative assay: No


Perform PKLR genetic characterization: Yes

Method used for PKLR genetic characterization: NGS

Turn-around-time?: 2 weeks - 4 weeks maximum


Offer genetic counselling for PKD: No

Have prenatal diagnosis for PKD available: Yes