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HelpTest Code SLO Smith-Lemli-Opitz Screen, Plasma
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
PlasmaNecessary Information
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Collection Container/Tube:
Preferred: Green top (sodium or lithium heparin)
Acceptable: Lavender top (EDTA), pearl white top (EDTA plasma gel), yellow top (ACD solution A or B)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions:
1. Centrifuge and aliquot plasma into plastic vial.
2. Send plasma frozen.
Specimen Minimum Volume
0.1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen (preferred) | 92 days | |
| Refrigerated | 28 days | ||
| Ambient | 14 days |
Reference Values
7-DEHYDROCHOLESTEROL
≤2.0 mg/L
8-DEHYDROCHOLESTEROL
≤0.3 mg/L
Day(s) Performed
Tuesday, Friday
CPT Code Information
82542
Report Available
3 to 7 daysSpecimen Retention Time
1 monthReject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Genetics Test Information
Smith-Lemli-Opitz syndrome (SLO) is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase.
Clinical variability even within families has been noted and severity of SLO ranges from severe to mild.
Elevated plasma concentrations of 7-DHC and 8-dehydrocholesterol are highly suggestive of a biochemical diagnosis of SLO.