PKDeep
Assistance Publique-Hopitaux De Marseille-Hopital Tinone
Institutional data
Institution: Assistance Publique-Hopitaux De Marseille-Hopital Tinone
Country: France
Website: www.ap-hm.fr
Department: Service D'Hemato-Oncologie Pediatrique
Website: www.ap-hm.fr
Department e-mail: isabelle.thuret@ap-hm.fr
Department phone: +33491386776
Contact persons: Bernit Emmanuelle
Department activity: Clinical management, Diagnostic
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 14
2018
Total number of PKD patients in follow-up: 14
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: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes