List of Services
Biochemical Assays: Lactate (blood, CSF) Pyruvate Ischaemic Exercise Test Ammonia Creatine Kinase Creatine Kinase ...
Biochemical Genetics Department
Services
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.
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 ...
Accreditation
Since 1995 the department has been participating successfully in several External Quality Assurance and Proficiency programmes organized by ERNDIM and CAP. ...
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