PKDeep
Universitätsklinikum Heidelberg
Institutional data
Institution: Universitätsklinikum Heidelberg
Country: Germany
Website: https://www.klinikum.uni-heidelberg.de/Willkommen.1035.0.html
Department: Klinik für Pädiatrische Onkologie, Hämatologie, Immunologie und Pneumologie
Website: https://www.klinikum.uni-heidelberg.de/zentrum-fuer-kinder-und-jugendmedizin/iii-paediatrische-onkologie-haematologie-immunologie-und-pneumologie
Department e-mail: onkologischekinderambulanz@med.uni-heidelberg.de
Department phone: 06221 568381
Contact persons: Joachim Kunz
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 1
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
Number of PKD adult patients (≥ 18 years): 1
Number of PKD patients adults with genetic analysis performed: 1
2018
Total number of PKD patients in follow-up: 2
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: No
Method used to perform PK activity assay?:
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: Sanger, NGS
Turn-around-time?: Weeks
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes