PKDeep
Imperial College Healthcare NHS Trust
Institutional data
Institution: Imperial College Healthcare NHS Trust
Country: United Kingdom
Website: https://www.imperial.nhs.uk/
Department: Haematology
Website: https://www.imperial.nhs.uk/
Contact persons: Mark Layton
Department activity: Clinical management, Diagnostic
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 15
2018
Total number of PKD patients in follow-up: 15
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 0
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Other RBC enzyme activity assays you performed: Hexokinase
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: No