Members

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

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