2 - 8 days
SLO (Smith-Lemli-Opitz) Syndrome
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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.
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.