Diagnostics:

The Metabolic Laboratory (ML) and the Genetic Metabolic Diseases Laboratory (lab GMD) will merge into the Genetic Metabolic Diseases Laboratory at location AMC. From November 25 on, we will provide our diagnostic services entirely from location AMC.

By this merger we will improve our diagnostic services. You will be informed about future changes in our services on this website. Please see also our current list of Metabolite and Enzyme diagnostic tests and DNA-diagnostic tests. For sampling and shipment instructions click here.

Specific notifications:

• From November 22 till December 10, turnaround times may be slightly longer than expected. Please contact us for urgent requests/questions .
• CSF protocol: The procedure for CSF sampling has been changed. New protocol can be downloaded here.
• All genes currently sequenced by ML will be offered by lab GMD, to be requested with our new DNA request form from November 15 onwards

The Laboratory Genetic Metabolic Diseases (Lab GMD) is a combined diagnostic and research laboratory which is specialized in metabolism, with a focus on inborn errors of metabolism (IEM). For diagnostic purposes metabolite, enzyme activity and mutation analyses are performed. Lab GMD also houses the Core Facility Metabolomics for intra- and extramural contract research.

Our Organic synthesis laboratory provides home-made standards for metabolic research for the less common compounds, see Organic Synthesis Laboratory.

Lab GMD is accredited by the Dutch Accreditation Council (RvA) on the basis of the EN ISO 15189:2012 standard.

Referring laboratories can view our declaration of competence.