Members

Azienda Ospedaliera Universitaria Federico Ii Napoli

Institutional data

Institution: Azienda Ospedaliera Universitaria Federico Ii Napoli

Country: Italy

Website: www.policlinico.unina.it


Department: Daimedlab

Website: www.policlinico.unina.it

Department e-mail: achille.iolascon@unina.ut

Department phone: 390813737897

Contact persons: Achille Iolascon, Roberta Russo, Immacolata Andolfo

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Pediatrics, Adults

Diagnostic methodologies: Biochemical / Phenotyping, Genetics

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 3


2018

Total number of PKD patients in follow-up: 3


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 23

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

Other RBC enzyme activity assays you performed: Adenylate kinase, Glucose-6-phosphate dehydrogenase

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


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes