PKDeep
Hospital Infantil Universitario Niño Jesús
Institutional data
Institution: Hospital Infantil Universitario Niño Jesús
Country: Spain
Website: http://www.madrid.org/cs/Satellite?pagename=HospitalNinoJesus/Page/HNIJ_home
Department: Hemato Oncología Pediátrica
Website: http://www.madrid.org/cs/Satellite?pagename=HospitalNinoJesus/Page/HNIJ_home
Department phone: +34 915035938
Contact persons: Julián Sevilla
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Pediatrics
Is transition to adulthood covered? No
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 2
NNumber of PKD pediatric patients with genetic analysis performed: 2
Number of PKD pediatric patients with genetic analysis performed: 2
2018
Total number of PKD patients in follow-up: 1
Number of PKD pediatric patients (<18 years): 1
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
2017
Total number of PKD patients in follow-up: 1
Number of PKD pediatric patients (<18 years): 1
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
PKD diagnosis: services offered
Perform PK enzyme activity assay: No
Method used to perform PK activity assay?:
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: No