SLO - Overview: Smith-Lemli-Opitz Screen, Plasma

Test Catalog

Test Name

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)


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.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Gas Chromatography-Mass Spectrometry (GC-MS)

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


Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

Smith-Lemli-Opitz Scrn, P

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

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