Members

Fondazione Irccs Ca Granda Ospedale Maggiore Policlinico

Institutional data

Institution: Fondazione Irccs Ca Granda Ospedale Maggiore Policlinico

Country: Italy

Website: www.policlinico.mi.it


Department: Uoc Ematologia; Uos Fisiopatologia Delle Anemie

Website: www.policlinico.mi.it

Department e-mail: div_emat@policlinico.mi.it

Department phone: 255033425

Contact persons: Paola Bianchi, Wilma Barcellini

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Adults

Diagnostic methodologies: Biochemical / Phenotyping, Genetics

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 28

Number of PKD adult patients (≥ 18 years): 28

Number of PKD patients adults with genetic analysis performed: 28


2018

Total number of PKD patients in follow-up: 26

Number of PKD adult patients (≥ 18 years): 26

Number of PKD patients adults with genetic analysis performed: 26


2017

Total number of PKD patients in follow-up: 26

Number of PKD adult patients (≥ 18 years): 26

Number of PKD patients adults with genetic analysis performed: 26


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 140

Number of PK deficient cases diagnosed in the last 25 years from center's country: 84

Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 56

Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)

Turn-around-time?: 1 week

Other RBC enzyme activity assays you performed: Adenylate kinase, Aldolase, Bisphosphoglycerate mutase, NADH-cytochrome b5 reductase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, Pyrimidine-5’-nucleotidase, Triosephosphate isomerase

Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).

Externalize PK activity quantitative assay: No


Perform PKLR genetic characterization: Yes

Method used for PKLR genetic characterization: Sanger, NGS

Turn-around-time?: 20 days ( sanger)


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes