PKDeep
University Hospital Brno
Institutional data
Institution: University Hospital Brno
Country: Czech Republic
Website: www.fnbrno.cz
Department: Department of Internal Medicine - Hematology and Ocnology
Website: www.fnbrno.cz
Department e-mail: doubek.michael@fnbrno.cz
Department phone: +420 532 233 642
Contact persons: Michael Doubek
Department activity: Clinical management, Diagnostic
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: 0
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: NGS
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes