PKDeep
University Hospital Motol
Institutional data
Institution: University Hospital Motol
Country: Czech Republic
Website: www.fnmotol.cz
Department: Department of Pediatric Hematology and Oncology
Website: www.fnmotol.cz
Department phone: +420 224436402 ; 6565
Contact persons: Martina Sukova
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: 1
Number of PKD pediatric patients (<18 years): 1
2018
Total number of PKD patients in follow-up: 1
Number of PKD pediatric patients (<18 years): 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
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: Yes