Sly Syndrome – Enzyme Analysis

Disease name Sly Syndrome (MPS VII)
Enzyme Name Beta-glucuronidase
Clinical info 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.
Indications This test can be used to confirm a suspected Sly syndrome diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Associated Tests

Measurement of beta-glucuronidase is included in the MPS Panel, MPS urine analysis, and the Storage disease screening panel.
Molecular analysis of the gene for Sly syndrome (GUSB) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.

Methodology Quantifies level of beta-glucuronidase via the 4-methylumbelliferyl substrate
Specimen Requirements

Enzyme activity can be measured in leukocytes or cultured fibroblasts. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube.

Transport Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of specimen collection. Cultured fibroblasts can be sent overnight at room temperature.
Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657
Cost $200
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

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