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HelpTest ID SLO Smith-Lemli-Opitz Screen, Plasma
Useful For
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
Highlights
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
Gas Chromatography-Mass Spectrometry (GC-MS)
Reporting Name
Smith-Lemli-Opitz Scrn, PSpecimen Type
PlasmaSpecimen Required
Collection Container/Tube:
Preferred: Green top (sodium or lithium heparin)
Acceptable: Lavender top (EDTA), pearl white top (EDTA/gel tubes), yellow top (ACD A) or yellow top (ACD B)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge specimen and aliquot plasma. Send plasma frozen.
Specimen Minimum Volume
0.2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen (preferred) | 90 days | |
| Refrigerated | 90 days |
Reference Values
Negative (reported as positive or negative)
Quantitative results are provided when positive.
Day(s) and Time(s) Performed
Tuesday, Friday; 8 a.m. (not reported on Saturday or Sunday)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SLO | Smith-Lemli-Opitz Scrn, P | 33275-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 81595 | Smith-Lemli-Opitz Scrn, P | 33275-9 |
| 29972 | Interpretation | 59462-2 |
| 29974 | Reviewed By | 18771-6 |
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.NY State Approved
YesForms
If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.