| Purpose: |
Comparison of outcome in heterogeneous group of lab-assays, relevant to the diagnosis of inborn errors of metabolism, in respect to median and target values. In addition recovery of added analyte, precision, and analytical linearity are tested. |
| Scientific Expert: |
Dr. Rafael Artuch, e-mail: Rartuch@sjdhospitalbarcelona.org |
| Scheme Organiser: |
Dr. E. van der Hagen e-mail: E.vanderhagen@skbwinterswijk.nl |
| Analytes: |
3 OH Butyrate, 7-Dehydrocholesterol, 7-Ketocholesterol, Biotinidase*, Very Long Chain Fatty Acids (C22/24 and 26:0), Carnitine Free, Cholestane-3b, 5a, 6b-triol, Cholestanol, Cholesterol*, Coenzyme Q10, Creatine, Galactose, Glycosylsphingosine, Guanidine acetic acid, Homocysteine, Lactic acid, Lyosphingomyelin, Lyso Gb3, Methylmalonic acid, NEFA*, Phytanic acid, Pipecolic acid, Pristanic acid and Pyruvic acid (2020).
*these analytes are present in the matrix so the concentration does not vary but results can be recorded for comparison between labs |
| Number of Specimens/Year: |
8 |
| Matrix of the Specimens: |
Lyophilised, spiked human serum |
| Volume/Specimen: |
5 mL/vial |
| Number of Shipments/Year: |
One shipment of 8 specimens in February |
| Submission of Results: |
Via ERNDIM Interactive Website |
| Reports: |
Requested from ERNDIM Interactive Website |
| Certificate: |
Once a year issued by ERNDIM Board |
| Number of Participants: |
251 (2019) |
| Status of the Scheme: |
Operated since 1993 |
| Geographic Area: |
Worldwide |
| Limitation Participation: |
None |
| Cost/Year: |
204 EURO / 355 EURO in combination with Special Assays in Urine (2021) |
| How to subscribe: |
e-mail: admin@erndim.org |
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