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