PKDeep
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
2024
2023
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