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Test ID: SLO    
Smith-Lemli-Opitz Screen, Plasma

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Smith-Lemli-Opitz syndrome (SLO) is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme 7-dehydrocholesterol reductase.

 

Clinical variability has been noted, even within families, and the severity of SLO ranges from severe to mild.

 

Elevated plasma concentrations of 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) are highly suggestive of a biochemical diagnosis of SLO.

Method Name A short description of the method used to perform the test

Gas Chromatography-Mass Spectrometry (GC-MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Smith-Lemli-Opitz Scrn, P

Aliases Lists additional common names for a test, as an aid in searching

7-Dehydrocholesterol Reductase Deficiency
8-Dehydrocholesterol
RSH Syndrome
Smith Lemli Opitz (SLO)