PKDeep
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
2024
2023
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