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Rigshospitalet

Institutional data

Institution: Rigshospitalet

Country: Denmark

Website: www.rigshospitalet.dk


Department: Danish Center for Hemoglibinopathies, Department of Hematology

Website: www.rigshospitalet.dk/afdelinger-og-organsygdomme/haematologisk-klinik/Sider/default.aspx

Department e-mail: vhs@regionh.dk

Contact persons: Andreas Glenthøj, Jesper Petersen

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Pediatrics, Adults

Diagnostic methodologies: Genetics


Department:

Institution's activity

2022


2021


2020


2019

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

Number of PKD patients adults with genetic analysis performed: 18


2018

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

Number of PKD patients adults with genetic analysis performed: 18


2017

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

Number of PKD patients adults with genetic analysis performed: 18


PKD diagnosis: services offered

Perform PK enzyme activity assay: No

Externalize PK activity quantitative assay: Yes


Perform PKLR genetic characterization: Yes

Method used for PKLR genetic characterization: Sanger, NGS

Turn-around-time?: 120 hours


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes