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. C. Weykamp e-mail: c.w.weykamp@skbwinterswijk.nl
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 per year
Submission of Results: Via email to Scientific Advisor
Reports: Annual report generated by D.J.Lefeber
Certificate:
Number of Participants: 60 (2014)
Status of the Scheme: Pilot since 2008, official in 2010
Geographic Area: Worldwide
Limitation Participation: None
Cost/Year: 256 EURO (2015)
How to subscribe: Dr. Sara Gardner, e-mail: admin@erndim.org
Annual report: Click here for the annual reports
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