Dihydropyrimidinase (DHP)

Disease

DHP deficiency.

Description

Dihydropyrimidinase (DHP) catalyzes the second reaction of the pyrimidine degradation pathway. A deficiency is associated with neurological abnormalities and fluoropyrimidine toxicity.

OMIM

222748

Method

HPLC-Radiochemistry

Price

€ 650

Materials:


Liver

  • Test material: Liver biopsy.
  • Conditions: Dry ice.
  • Specifics: Liver needle biopsies (> 50 mg wet weight) should be frozen immediately in liquid nitrogen, stored at -80 °C, clearly labeled (with name of patient and date of birth), and subsequently shipped by courier service on dry ice. Please make sure to add enough dry ice for the sample to reach our laboratory in a fully frozen state. Do not add any fixative or other fluid! Please complete the test request form and send it along with the sample.
  • TAT: 3 weeks.