Screening Method for Smith-Lemli-Opitz Syndrome

Using this method it is possible to determine, from a small blood sample taken from a newborn, whether there are abnormalities in the sterol content of the blood. The overabundance of certain sterols and the lack of others is a reliable test for Smith-Lemli-Opitz syndrome, a hereditary condition which leads to mental retardation and which can be ameliorated if detected early. Additional information available upon request.

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