PKDeep
Hospital Universitari Vall d'Hebron
Institutional data
Institution: Hospital Universitari Vall d'Hebron
Country: Spain
Website: www.vhebron.net
Department: Hematology Department
Website: https://www.vallhebron.com/en/specialities/haematology-and-haemotherapy
Department e-mail: aberengueras@vhio.net
Department phone: +34932746197
Contact persons: David Beneitez Pastor, María del Mar Mañú Pereira, Adoración Blanco Álvarez
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Adults
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Department: Pediatric hemato-oncology
Department phone: +34934893093
Contact persons: Cristina Diaz de Heredia, Pablo Velasco, Thais Murciano
Department activity: Clinical management
Type of patients in Follow-up: Pediatrics
Is transition to adulthood covered? Yes
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 10
Number of PKD pediatric patients (<18 years): 4
NNumber of PKD pediatric patients with genetic analysis performed: 4
Number of PKD pediatric patients with genetic analysis performed: 4
Number of PKD adult patients (≥ 18 years): 6
Number of PKD patients adults with genetic analysis performed: 6
2018
Total number of PKD patients in follow-up: 10
Number of PKD pediatric patients (<18 years): 4
Number of PKD adult patients (≥ 18 years): 6
2017
Total number of PKD patients in follow-up: 10
Number of PKD pediatric patients (<18 years): 4
Number of PKD adult patients (≥ 18 years): 6
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: Yes
Method used for PKLR genetic characterization: Sanger, NGS
Turn-around-time?: 1-2 months
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes