Hunter syndrome laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
A definitive diagnosis of Hunter syndrome is made by measuring I2S activity in [[serum]], [[white blood cell]]s, or [[fibroblast]]s 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. | |||
==References== | ==References== |
Revision as of 18:44, 26 February 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Laboratory Findings
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.