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.|
Urinary excretion of dermatan sulfate and heparin sulfate is seen which can be assessed via MPS electrophoresis.
|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.
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.