ERNDIMQA - 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
Scheme Organiser: MCA
Analytes: 3 OH Butyrate, 7-Dehydrocholesterol, 7-Ketocholesterol, Biotinidase*, Very Long Chain Fatty Acids (C22/24 and 26:0), C26:0 LPC,  Carnitine Free, Cholestane-3b, 5a, 6b-triol, Cholestanol, Cholesterol*, Coenzyme Q10, Creatine, Galactose, Glucosylsphingosine, Guanidine acetic acid, Homocysteine,  Lactic acid, Lyso Gb3, Lyosphingomyelin, Methylmalonic acid, NEFA*, Phytanic acid, Pipecolic acid, Pristanic acid, Pyruvic acid and Succinylacetone (2023).

*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: Online via ERNDIM-MCA website
Reports: Requested from ERNDIM-MCA website
Certificate: Once a year issued by ERNDIM Board
Number of Participants: 244 (2023)
Status of the Scheme: Operated since 1993
Geographic Area: Worldwide
Limitation Participation: None
Cost/Year: 215 EURO / 375 EURO in combination with Special Assays in Urine (2023)
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