Description / Indication
Purine synthesis, salvage and degradation defects.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour urine.
- Conditions: Dry ice.
CSF*
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
Plasma*
- Amount: 500 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.