Hunter Syndrome – Enzyme Analysis

Disease name Hunter syndrome (MPS II)
Enzyme Name Hunter syndrome is caused by a deficiency of iduronate-2-sulfatase
Clinical info Hunter Syndrome is an X-linked condition characterized by coarse facial features, hepatosplenomegaly, dysostosis multiplex, stiff joints, hydrocephalus, and developmental regression.
Indications This test can be used to confirm a suspected Hunter syndrome diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Associated Tests

Urinary excretion of dermatan sulfate and heparin sulfate is seen which can be assessed via MPS electrophoresis.
Iduronate-2-sulfatase is also part of the MPS Enzyme Panel.
Molecular analysis of the gene for Hunter syndrome (IDS) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.

Methodology Quantifies level of Iduronate-2-sulfatase via the 4-methylumbelliferyl substrate
Specimen Requirements Plasma is preferred, but fibroblasts are also accepted. Blood should be drawn in a green top, sodium heparin tube, for the plasma sample. In addition, blood drawn in an EDTA tube can  be used for Hunter syndrome molecular analysis and may be sent with the plasma sample for DNA banking. Please indicate on the requisition if DNA should be banked for follow-up molecular testing.
Transport For plasma, ship overnight or spin down and send frozen. Cultured fibroblasts can be sent overnight at room temperature.  Whole blood should also be shipped overnight.  Do not freeze whole blood.
Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657(x2)
Cost $400
Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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