| Purpose: |
Lysosomal enzymes, testing of reproducibility and ability to detect
enzyme deficiencies in LSD's. |
| Scientific Expert: |
Dr. Otto van Diggelen email: QA-LSD@erasmusmc.nl |
| Scheme Organiser: |
Dr. C. Weykamp e-mail: c.w.weykamp@skbwinterswijk.nl |
| Analytes: |
10 relevant lysosomal enzyme activities for standard scheme. |
| Number of Specimens/Year: |
8 lyophilised specimens for standard scheme. |
| Matrix of the Specimens: |
Lyophilised homogenates of leukocytes and EBV-lymphoblasts. |
| Volume/Specimen: |
2 mg lyophilised protein/standard specimen. |
| Number of Shipments/Year: |
One shipment of 8 specimens in January or February (standard). |
| Submission of Results: |
Via ERNDIM Interactive Website, 4 times/year, 2 months intervals |
| Reports: |
Requested from ERNDIM Interactive Website. |
| Certificate: |
Once a year issued by ERNDIM board |
| Number of Participants: |
57 |
| Status of the Scheme: |
Pilot phase started in 2006 initiated by the ESGLD.
Regular ERNDIM scheme since 2010 |
| Geographic Area: |
Worldwide |
| Limitation Participation: |
None. |
| Cost/Year: |
400 EURO (2010) |
| How to subscribe: |
Mr. M. Heron, e-mail: ssiem_mjh@onetel.com |
| Annual report: |
|