Sly syndrome (MPS VII)
Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
This test quantitatively measures total glycosaminoglycans (GAGs), dermatan sulfate (uDs), and chondroitin sulfate (uCS) component GAGs, and can be used to monitor disease progession in patients with Sly syndrome (Mucopolysaccharidosis VIII, MPS VII).
Clinical Information
Sly syndrome, or mucopolysaccharidosis type VII, is a lysosomal storage disorder resulting from deficient enzyme activity of beta-glucuronidase. This autosomal recessive disorder has a highly variable phenotype. The most severe form presents prenatally as hydrops fetalis. Patients with a less severe phenotype present with hepatomegaly, skeleltal anomalies and coarse facies. The degree of cognitive impairment varies with the mildest cases surviving into adulthood.
Technical Information
Total glycosaminoglycans are analyzed by 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry. Chondroitin sulfate and dermatan sulfate are analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC