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: |
346 EURO (2020) |
| How to subscribe: |
e-mail: admin@erndim.org |
| Annual report: |
Click here for the annual reports |
