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