Description / Indication
Transaldolase deficiency, ribose 5-phosphate isomerase deficiency.
Method
GC-FID
TAT
4 weeks
Price
€ 230
Test request form Metabolite diagnostics
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Plasma *
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
CSF *
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
* Note: Testing in this material is not covered by the ISO15189 accreditation of the laboratory. Price and TAT on request.