Pyrimidines

Description / Indication

Pyrimidine degradation defects; e.g. dihydropyrimidine dehydrogenase deficiency.

Method

HPLC-MS/MS

TAT

4 weeks

Price

€ 140

Materials:


Urine

  • Amount: 1 ml, random specimen or 24-hour collection.
  • Conditions: Dry ice.

Urine spot

  • Amount: 12 mm x 40 mm filterpaper containing urine, dry.
  • Conditions: Room temperature.

Blood spot *

  • Amount: 4 dried bloodspots of 40 µl blood on a guthrie card.
  • Conditions: Room temperature.
  • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

CSF *

Plasma *

  • Amount: 300 µl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

* Note: Testing in this material is not covered by the accreditation of the laboratory.