Educational Documents provided by ERNDIM

Theroretical aspect of QC in IEM and Method validation

This document has been developed within the framework of the EU project BMH4-98-3404 led by Baudouin François MD, Belgium. It was undertaken by a working group with the following members: Dr. P. Divry, Lyon; Prof. B. François, Chairman, Diepenbeek; Dr. A.C. Sewell, Frankfurt; Dr. L. Spaapen, Maastricht. C. Vandervorst, Diepenbeek.

The general aim of the project is to add insight into the clinical research of orphan diseases (Area 4. 6). Due to the low prevalence of these rare diseases no country can afford the implementation on a national basis of diagnostic criteria or quality assessment of the biochemical methods used in the diagnostic or therapeutic procedures of IDM. The set- up of an educational system for exchange information on clinical expression of rare diseases and exchange samples of patients with IDM throughout a harmonisation of the biochemical methods, should offer unique opportunities to link the experience of each individual IDM centre at the E.U. level.

Control of Accuracy and Precision

The theoretical background of Quality Control (QC) has been presented in an earlier BIOMEDII ERNDIM Newsletter ( February 1999). For stimulating participants of the ERNDIM QAP we want to remind you that the internal QC results allow you to assess rationally (no guess-work!) whether consecutive changes of laboratory results are most likely reflecting the biochemical course of the disease and of its treatment or if such changes can merely be explained by the existing day to day imprecision of the analytical process. In the appendix we describe our recipe for preparing QC-material for amino acid analysis to allow you to do this yourself. Finally we discuss the need for external quality control and awareness of the accuracy of your results in making recommendations or comparisons with data from the literature for managing your patients.

Amino Acid Analysis Recommendations

This Standard Operating Procedure was developed as part of the EU BIOMED 2-project, BMH4-98-3404 led by Baudouin François MD, Belgium as part of the sub-project SP4 "Calibration standard for amino acids"

Biomed 2 Recommendations

The content of this report is based on a meeting held at CHUV, Lausanne, Switzerland, March, 7th, 2000.
Present: J. Bonham, A. van Gennip, B. François, C. Bachmann, P. Divry, B. Fowler Apologised: L. Spaapen, A. Sewell.

This subproject served to summarise objectively achievements of Biomed 2 and to produce recommendations for future developments in European-wide quality assurance of laboratory measurements in relation to inherited metabolic disorders.

Polymorphonuclear Leucocyte Preparation

Polymorphonuclear leucocytes should be the biological material of choice for measurement of cystine because cystine in cystinotic leucocytes is located primarily in phagocytic blood cells (polynuclear and monocytes) rather than in lymphocytes.

Mixed Leucocyte Preparation

This preparation method has been in use at Guy’s Hospital, London for the last 12 years and was originally established under the guidance of Professor J Schneider, UCSD

Last changed: 2010-03-19