Hunter syndrome laboratory findings: Difference between revisions
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Revision as of 19:02, 26 February 2013
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Hunter syndrome Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Hunter syndrome laboratory findings On the Web |
American Roentgen Ray Society Images of Hunter syndrome laboratory findings |
Risk calculators and risk factors for Hunter syndrome laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
A definitive diagnosis of Hunter syndrome is made by measuring I2S activity in serum, white blood cells, or fibroblasts from skin biopsy. In some people with Hunter syndrome, analysis of the I2S gene can determine clinical severity. Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.