Lysosomal Diseases Testing Laboratory
Sample Requirements for Testing in Urine
- For sulfatide extraction send at least 10 ml of well-mixed (to provide any sediment from the sample) first morning voiding of urine. Minmum volune is 5 ml. Urine may be collected and sent overnight Monday through Thursday at room temperature in an insulated container (e.g. styrofoam box). If urine can not be sent immediately, it may be frozen and sent on dry ice.
- For sialic acid content or mucopolysaccharide (glycosaminoglycans, GAGs) screening (acid albumin turbidity test) in urine send at least 2 ml of a random urine sample as detailed above for sulfatide extraction.