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

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