PKDeep
Charité - Universitätsmedizin Berlin
Institutional data
Institution: Charité - Universitätsmedizin Berlin
Country: Germany
Website: www.charite.de
Department: Dept. of Pediatric Oncology and Hematology
Website: www.charite.de
Department e-mail: kinderonkologie@charite.de
Department phone: +49(0)30450566004
Contact persons: Stephan Lobitz
Department activity: Clinical management
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 4
2018
Total number of PKD patients in follow-up: 4
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: Yes
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes