Description / Indication
Vitamin B6-responsive seizures due to an alfa-AASA dehydrogenase (antiquitin) deficiency. Sulfite oxidase and Molybdenum Cofactor deficiency; for this sulfo-l-cysteine is also quantified, but is not routinely reported.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 230
Test request form Metabolite diagnostics
Materials:
Urine
- Amount: 500 µl, random specimen or 24-hour urine.
- Conditions: Dry ice.