PKDeep
Sheffield Teaching Hospital
Institutional data
Institution: Sheffield Teaching Hospital
Country: United Kingdom
Website: http://www.sth.nhs.uk/
Department: Haematology
Website: http://www.sth.nhs.uk/
Department e-mail: josh.wright5@nhs.net
Department phone: 1142711731
Contact persons: Dr Josh Wright, Jason Eyre
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Adults
Diagnostic methodologies: Biochemical / Phenotyping
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 5
2018
Total number of PKD patients in follow-up: 4
2017
Total number of PKD patients in follow-up: 4
Number of PKD adult patients (≥ 18 years): 5
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 7
Number of PK deficient cases diagnosed in the last 25 years from center's country: 7
Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 0
Method used to perform PK activity assay?: Other
Other RBC enzyme activity assays you performed: Glucose-6-phosphate dehydrogenase
Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes