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.

The Department also collaborates with the  Cytogenetics & Genomics Department for the provision of Next Generation Sequencing (NGS) for patients with a strong clinical and biochemical indication for an IEM but without a definite diagnosis.




List of Services

Biochemical Assays:  Lactate (blood, CSF) Pyruvate Ischaemic Exercise Test  Ammonia  Creatine Kinase  Creatine Kinase ...

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. ...