PKDeep
Faculty Hospital of Palacky University
Institutional data
Institution: Faculty Hospital of Palacky University
Country: Czech Republic
Website: www.fnol.cz
Department: Faculty Hospital of Palacky University
Website: www.fnol.cz
Department e-mail: dagmar.pospisilova@fnol.cz
Department phone: +420 58844401; +410 58844403
Contact persons: Dagmar Pospisilova, Barbara Ludikova, Paula Koralkova
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Pediatrics, Adults
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 9
Number of PKD pediatric patients (<18 years): 6
NNumber of PKD pediatric patients with genetic analysis performed: 6
Number of PKD pediatric patients with genetic analysis performed: 6
Number of PKD adult patients (≥ 18 years): 3
Number of PKD patients adults with genetic analysis performed: 3
2018
Total number of PKD patients in follow-up: 9
Number of PKD pediatric patients (<18 years): 6
NNumber of PKD pediatric patients with genetic analysis performed: 6
Number of PKD pediatric patients with genetic analysis performed: 6
Number of PKD adult patients (≥ 18 years): 3
Number of PKD patients adults with genetic analysis performed: 3
2017
Total number of PKD patients in follow-up: 9
Number of PKD pediatric patients (<18 years): 6
NNumber of PKD pediatric patients with genetic analysis performed: 6
Number of PKD pediatric patients with genetic analysis performed: 6
Number of PKD adult patients (≥ 18 years): 3
Number of PKD patients adults with genetic analysis performed: 3
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 14
Number of PK deficient cases diagnosed in the last 25 years from center's country: 12
Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 2
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Turn-around-time?: 3 hours mínimum
Other RBC enzyme activity assays you performed: Adenosine deaminase, Adenylate kinase, Aldolase, Bisphosphoglycerate mutase, NADH-cytochrome b5 reductase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, Triosephosphate isomerase
Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: Sanger
Offer genetic counselling for PKD: No
Have prenatal diagnosis for PKD available: No