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: |
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: admin@erndim.org |
Annual report: |
Click here for the annual reports |