Biochemical Genetics Department


The Department of Biochemical Genetics offers a wide spectrum of specialized biochemical tests for the laboratory investigation and monitoring of inborn errors of metabolism (IEM). The most up-to-date technology is used including HPLC, GC/MS and LC-MS/MS.

Over the years, the Department has made many diagnoses which resulted in the prevention of death or mental retardation in newborns and children. Apart from specialized biochemical tests for the investigation of IEM, the department offers therapeutic drug monitoring for immunosuppressive drugs.

List of Services

List of Biochemical Assays and Muscle Biochemistry services

Submitting Samples

If you have a patient for which you believe a diagnostic work up for an inborn error of metabolism is needed, please fill out both pages of the original ...


Since 1995 the department has been participating successfully in several External Quality Assurance and Proficiency programmes organized by ERNDIM and CAP. ...