Special Assays in Serum

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
Annual report: Click here for the annual reports
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