PKDeep
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
2024
2023
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