ERNDIMQA - Congenital Disorders of Glycosylation

Purpose: Qualitative interpretation of sialotransferrin profiles in the screening for Congenital Disorders of Gycosylation (CDG)
Scientific Expert: Dr. Dulce Quelhas
Scheme Organiser: MCA / CSCQ
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 a 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: 383 EURO (2023)
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