Description / Indication
Neurotransmitter defects, pterin synthesis and regeneration defects, phenylketonuria, cerebral folate deficiency, folate transport defects.
In plasma, only the pterins (total neopterin and total bopterin) are determined.
In CSF, the pterins (total neopterin and total bopterin), phenolic acids (5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid (HVA), 3-methoxy-4-hydroxyphenylglycol (MHPG), 3-O-Methyldopa (3-OMD ), VLA (vanillactic acid)) and 5-hydroxytryptophan (5-HTP) and 5-methyltetrahydrofolate (5-MTHF) are determined.
Method
LC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
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.