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: D.Lefeber@neuro.umcn.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: |
20 microL; in case of insufficient volume, 40microL could be requested |
| Number of Shipments/Year: |
One shipment of 6 samples per year |
| Submission of Results: |
Per email |
| Reports: |
Generated by D.J.Lefeber |
| Certificate: |
|
| Number of Participants: |
46 |
| Status of the Scheme: |
Pilot since 2008, official in 2010 |
| Geographic Area: |
Worldwide |
| Limitation Participation: |
None |
| Cost/Year: |
241 EURO (2013) |
| How to subscribe: |
Dr. Sara Gardner, e-mail: admin@erndim.org |
| Annual report: |
Click here for the annual reports |
