Members

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

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