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. C. Weykamp, e-mail: c.w.weykamp@skbwinterswijk.nl
Analytes: 3 OH Butyrate, 7-Dehydrocholesterol, 7-Ketocholesterol, Very Long Chain Fatty Acids (C22/24 and 26:0), Carnitine Free, Cholestane-3b, 5a, 6b-triol,  Cholestanol, Creatine, Galactose, Glycosylsphingosine, Guanidine acetic acid, Homocysteine,  Lactic acid, Lyso Gb3, Methylmalonic acid, NEFA, Phytanic acid, Pipecolic acid, Pristanic acid and Pyruvic acid (2018).
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: 233 (2018)
Status of the Scheme: Operated since 1993
Geographic Area: Worldwide
Limitation Participation: None
Cost/Year: 185 EURO / 322 EURO in combination with Special Assays in Urine (2019)
How to subscribe: Dr. Sara Gardner, e-mail: admin@erndim.org
Annual report: Click here for the annual reports