Test Overview
Test Methodology
Gas Chromatography/Mass Spectrometry (GC/MS)
Test Usage
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
Reference Range *
Negative
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Test Details
Days Set Up
Varies; test performed once per week
Analytic Time
2 - 8 days
Soft Order Code
SLO
MiChart Code
Smith/Lemli/Opitz (7-DHC & 8-DHC)(Sendout)
Synonyms
- 8-Dehydrocholesterol (8-DHC)
- 7-Dehydrocholesterol (7-DHC)
- SLO (Smith-Lemli-Opitz) Syndrome
- SLO
- Smith-Lemli-Opitz Screen,Plas.
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 within 45 minutes of collection and freeze.
Special Handling
Fasting specimen. Must arrive in lab or aliquot and freeze within 45 minutes.
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
Additional Information
Test sent to Mayo Medical Laboratories.
Billing
CPT Code
82542
Fee Code
AA217