PKDeep
Fondazione Irccs Policlinico San Matteo
Institutional data
Institution: Fondazione Irccs Policlinico San Matteo
Country: Italy
Website: www.sanmatteo.org
Department: Pediatric Haematology / Oncology
Website: www.sanmatteo.org
Department e-mail: oeped@smatteo.pv.it
Department phone: +390382502607
Contact persons: Marco Zecca
Department activity: Clinical management
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 1
2018
Total number of PKD patients in follow-up: 1
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 2
Method used to perform PK activity assay?: Commercial kit
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes