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.

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.

Metabolite diagnostics

Enzyme diagnostics

DNA diagnostics

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