Test Overview
Test Methodology

Gas Chromatography/Mass Spectrometry (GC/MS)

Test Usage

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

Reference Range *

7-Dehydrocholesterol: < or = 2.0 mg/L
8-Dehydrocholesterol: < or = 0.3 mg/L

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
Tuesday, Friday
Analytic Time

4 - 10 days

Soft Order Code
MSLO
MiChart Code
Smith/Lemli/Opitz (7-DHC & 8-DHC)(Sendout)
Synonyms
  • 8-Dehydrocholesterol (8-DHC)
  • 7-Dehydrocholesterol (7-DHC)
  • SLO (Smith-Lemli-Opitz) Syndrome
Laboratory
Sendout
Reference Laboratory
Mayo SLO (81595)
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect specimen in a green top tube from a fasting patient (12 hour fast or just before next feeding for infants). Centrifuge, aliquot serum into a plastic vial, send to Specimen Processing frozen

Special Handling

Fasting specimen.

Alternate Specimen
Lavender top (EDTA), pearl white top (EDTA/gel tubes), yellow top (ACD A) or yellow top (ACD B)
Normal Volume
0.5 mL plasma
Minimum Volume
0.2 mL plasma
Storage Temperature
Frozen preferred, ambient or refrigerated acceptable
Additional Information

Test sent to Mayo Clinic Laboratories.

Billing
CPT Code
82542
Fee Code
AA217
NY State Approved
No