Iduronate-2-sulfatase (Hunter syndrome; MPS II)
Hunter Syndrome is an X-linked condition characterized by
coarse facial features, hepatosplenomegaly, dysostosis multiplex, stiff joints,
hydrocephalus, and developmental regression. A deficiency in
iduronate-2-sulfatase leads to the storage of dermatan sulfate and heparin
sulfate. This test can be used to confirm a suspected Hunter syndrome diagnosis
from mucopolysaccharide electrophoresis.
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.
Specimen required: Plasma is
preferred, though leukocytes or fibroblasts are also accepted. Blood drawn in an
EDTA tube can also be used for Hunter syndrome molecular analysis, if desired.
Transport: For plasma, ship
overnight or spin down and send frozen. Leukocytes must arrive within 24 hours
of blood draw.
Standard of Analysis: Quantifies
level of Iduronate-2-sulfatase via the 4-methylumbelliferyl substrate
Time required: Analysis is
usually completed within 2 weeks after receiving the specimen.
Reports: Written reports with
interpretation are mailed to the referring physician. Abnormal results will also
be telephoned to the referring physician.
CPT Codes: 82657(x4)
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