| Purpose: |
Lysosomal enzymes, testing of reproducibility and ability to detect
enzyme deficiencies in LSD's. |
| Scientific Expert: |
Dr. Otto van Diggele email: QA-LSD@erasmusmc.nl |
| Scheme Organiser: |
Dr. C. Weykamp e-mail: c.w.weykamp@skbwinterswijk.nl |
| Analytes: |
Galactose-6-sulphate sulphatase, beta-Galactosidase, beta-Glucuronidase, beta-Hexosaminidase A, beta-Hexosaminidase A+B, alpha-Iduronidase, Galactosylceramidase, Sphingomyelinase, beta-Mannosidase and alpha-N-Ac-glucosaminidase. |
| 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: |
70 |
| 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: |
412 EURO (2012) |
| How to subscribe: |
Dr. Sara Gardner, e-mail: admin@erndim.org |
| Annual report: |
Click here for the annual reports |