TRANSLATIONAL METABOLIC LABORATORY Expert diagnostics of metabolic disorders

About us:

The Translational Metabolic Laboratory of the Radboud University Medical Center offers an extensive portfolio of functional tests for diagnosis of metabolic diseases and the characterization of genetic variants of unknown significance. The laboratory is NEN-EN-ISO 15189 accredited. TML is part of the Department of Laboratory Medicine and Clinical Genetics Center Nijmegen. Please contact us for further information on how we can help you to put unknown genetic variants into functional context.

Our laboratory offers diagnostics for:

Metabolic diseases Complement mediated disorders
Mitochondrial disorders Neurodegenerative disorders
Iron disorders Congenital disorders of glycosylation

“Functional testing of unsolved variants”

Request forms:

The Translational Metabolic Laboratory offers testing for foreign requestors.

Below you can find a selection of request forms. For other requests and or information please contact us via:

  • Metabolomic diagnostics (NGMS)
  • Lysosomal storage disorders
  • Malodour syndrome diagnostics in body fluids

  • Complement mediated disorders

  • Mitochondrial diagnostics

  • neurodegenerative disorders
    English version will be added soon.
    (For type of tests offered see "turnaround time")

  • iron disorders
    English version will be added soon.
    (For type of tests offered see "turnaround time")

  • Congenital Disorders of Glycosylation

  • Functional genomics

  • Turnaround times TML

    Turnaround times TML

    Ordering and practical questions

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