Diagnostics: introduction

Laboratory Genetic Metabolic Diseases (Lab GMD) is an accredited laboratory for the diagnosis of Inherited Metabolic Diseases (IMD). Lab GMD performs biochemical- and molecular-genetic diagnostics with focus on:

• Metabolites: primary selective screening of inherited metabolic disorders, therapy monitoring of patients, biochemical diagnosis of neurogenic tumors
• Enzymes: determination of enzyme activities of selective sets of inborn errors of metabolism
• DNA: molecular post- en prenatal testing for over 50 different gene defects