Description / Indication
Peroxisomal defects, vitamin B6-responsive seizures due to a alpha-aminoadipic semialdehyde (alpha-ASA) dehydrogenase (antiquitin) deficiency. This metabolite is included in the metabolic epilepsy screening.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
CSF
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
Plasma
- Amount: 200 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.