Description / Indication
Pyrimidine degradation defects; e.g. dihydropyrimidine dehydrogenase deficiency.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
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 *
- Amount: 300 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
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.