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:
Scheme Organiser: Dr. C. Weykamp e-mail:
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: Once per year
Number of Participants: 67 (2018)
Status of the Scheme: Pilot since 2008, official in 2010
Geographic Area: Worldwide
Limitation Participation: None
Cost/Year: 330 EURO (2019)
How to subscribe: Dr. Sara Gardner, e-mail:
Annual report: Click here for the annual reports