Description / Indication
Sulfatides are the main storage product in metachromatic leukodystrophy. Their determination in urine is useful to confirm the diagnosis metachromatic leukodystrophy, when a deficiency of arylsulfatase A is observed, to exclude a pseudodeficiency and to provide evidence for an activator protein (Saposin B) deficiency.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 2 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.