Members

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

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