PKDeep
Institute of Hematology and Blood Transfusion
Institutional data
Institution: Institute of Hematology and Blood Transfusion
Country: Czech Republic
Website: www.uhkt.cz
Department: Department of Clinical Hematology
Website: www.uhkt.cz
Department e-mail: info@uhkt.cz
Department phone: +420 221977282 ; +420 221977282
Contact persons: Jaroslav Cermak, Jan Valka
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: 4
Number of PKD adult patients (≥ 18 years): 4
2018
Total number of PKD patients in follow-up: 4
Number of PKD adult patients (≥ 18 years): 4
2017
Total number of PKD patients in follow-up: 3
Number of PKD adult patients (≥ 18 years): 3
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 9
Number of PK deficient cases diagnosed in the last 25 years from center's country: 9
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?: Spectrophotometric assay (Beutler 1980)
Turn-around-time?: 3 hours
Other RBC enzyme activity assays you performed: Glucose-6-phosphate dehydrogenase
Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980). (Spectofotometry assay)
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: No
Have prenatal diagnosis for PKD available: No