Congenital Disorders of Glycosylation

Purpose: Qualitative interpretation of sialotransferrin profiles in the screening for Congenital Disorders of Gycosylation (CDG)
Scientific Expert: Dr. D.J. Lefeber e-mail: Dirk.Lefeber@radboudumc.nl
Scheme Organiser:

Dr. E. van der Hagen e-mail: E.vanderhagen@skbwinterswijk.nl

CSCQ: Dr. Xavier Albe, Xavier.Albe@hcuge.ch

Analytes: Sialotransferrin isoforms
Number of Specimens/Year: 6
Matrix of the Specimens: Lyophilised human plasma/serum
Volume/Specimen: 25 microL
Number of Shipments/Year: One shipment of 6 samples
Submission of Results: Via ERNDIM-CSCQ website
Reports:

Via ERNDIM-CSCQ website

Certificate: Once per year issued by ERNDIM Board
Number of Participants: 66 (2019)
Status of the Scheme: Pilot since 2008, official in 2010
Geographic Area: Worldwide
Limitation Participation: None
Cost/Year: 363 EURO (2021)
How to subscribe: e-mail: admin@erndim.org
Annual report: Click here for the annual reports
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