Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
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)
8-Dehydrocholesterol
RSH Syndrome
Smith Lemli Opitz (SLO)