Members

Hospital Universitario Cruces

Institutional data

Institution: Hospital Universitario Cruces

Country: Spain

Website: http://www.osakidetza.euskadi.eus/r85-ghhcru00/es/?lng=en


Department: Hematology

Website: http://www.osakidetza.euskadi.eus/r85-ghhcru00/es/?lng=en

Department e-mail: RAFAELANDRES.DELORBEBARRETO2@osakidetza.eus

Department phone: 34946006000

Contact persons: Rafael Del Orbe Barreto

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Pediatrics, Adults

Diagnostic methodologies: Genetics


Department: Pediatrics

Website: http://www.osakidetza.euskadi.eus/r85-ghhcru00/es/?lng=en

Department e-mail: rosamaria.adanpedroso@osakidetza.eus

Department phone: +34946006000

Contact persons: Rosa María Adán Pedroso

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: 3

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

Number of PKD adult patients (≥ 18 years): 2

Number of PKD patients adults with genetic analysis performed: 1


2018

Total number of PKD patients in follow-up: 3

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

Number of PKD adult patients (≥ 18 years): 2

Number of PKD patients adults with genetic analysis performed: 1


2017

Total number of PKD patients in follow-up: 3

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

Number of PKD adult patients (≥ 18 years): 2

Number of PKD patients adults 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: Yes

Method used for PKLR genetic characterization: Sanger, NGS

Turn-around-time?: 1 or 2 months, depending on the slot where the sample it is included.


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes