Gas Chromatography/Mass Spectrometry (GC/MS)
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Days Test Performed
Varies; test performed once per week
2 - 8 days
Soft Order Code
Smith/Lemli/Opitz (7-DHC & 8-DHC)(Sendout)
SLO (Smith-Lemli-Opitz) Syndrome
Mayo SLO (81595)
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Offsite 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.
Fasting specimen. Must arrive in lab or aliquot and freeze within 45 minutes.
0.5 mL plasma
0.2 mL plasma
Test sent to Mayo Medical Laboratories.