PKDeep

Institute of Hematology and Blood Transfusion

Institutional data

Institution: Institute of Hematology and Blood Transfusion

Country: Czech Republic

Website: www.uhkt.cz


Department: Department of Clinical Hematology

Website: www.uhkt.cz

Department e-mail: info@uhkt.cz

Department phone: +420 221977282 ; +420 221977282

Contact persons: Jaroslav Cermak, Jan Valka

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Adults

Diagnostic methodologies: Biochemical / Phenotyping

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 4

Number of PKD adult patients (≥ 18 years): 4


2018

Total number of PKD patients in follow-up: 4

Number of PKD adult patients (≥ 18 years): 4


2017

Total number of PKD patients in follow-up: 3

Number of PKD adult patients (≥ 18 years): 3


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 9

Number of PK deficient cases diagnosed in the last 25 years from center's country: 9

Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 0

Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)

Turn-around-time?: 3 hours

Other RBC enzyme activity assays you performed: Glucose-6-phosphate dehydrogenase

Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980). (Spectofotometry assay)

Externalize PK activity quantitative assay: No


Perform PKLR genetic characterization: No

Externalize PKLR genetic characterization: Yes


Offer genetic counselling for PKD: No

Have prenatal diagnosis for PKD available: No