Members

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

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