PKDeep
Centro Hospitalar e Universitario de Coimbra
Institutional data
Institution: Centro Hospitalar e Universitario de Coimbra
Country: Portugal
Website: https://www.chuc.min-saude.pt/
Department: Clinical Hematology
Website: http://chuc-hematologiaclinica.org/
Department e-mail: uhm@chuc.min-saude.pt
Department phone: 351239480370
Contact persons: Tabita Magalhães Maia, Celeste Bento, Leticia Ribeiro
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: 11
2018
Total number of PKD patients in follow-up: 11
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 42
Number of PK deficient cases diagnosed in the last 25 years from center's country: 31
Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 11
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Turn-around-time?: One week
Other RBC enzyme activity assays you performed: Adenosine deaminase, Aldolase, Bisphosphoglycerate mutase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, Pyrimidine-5’-nucleotidase, 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, NGS
Turn-around-time?: 20 days
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes