Radboudumc

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Diagnostics

The laboratory of Gastroenterology and Hepatology of the Radboud University Nijmegen Medical Center performs DNA diagnostics regarding:

  • Hyperbilirubinemia (Gilbert Syndrome/Crigler Najjar);
  • Hereditary Pancreatitis;
  • Polycystic Liver Disease (PCLD);
  • Pain related disorders: 1. Erythermalgia, 2. Paroxysmal Extreme Pain Syndrome and 3. Congenital Insensitivity to Pain.
DNA diagnostics is performed under supervision of the Department of Human Genetics of the Radboud University Nijmegen Medical Center.
  • We also offer a number of pharmaco(genetic) tests:
  1. Sensitivity to medical treatment of hepatitis C;
  2. Glutathione S-transferase Mu null polymorphism;
  3. Glutathione S-transferase Theta null polymorphism;
  4. Glutathione in whole blood;
  5. Thio purine methyl transferase (TPMT) activity measurement for sensitivity to azathioprine.



Wild type sequence

Mutant sequence