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.
2 - 8 days
- 8-Dehydrocholesterol (8-DHC)
- 7-Dehydrocholesterol (7-DHC)
- SLO (Smith-Lemli-Opitz) Syndrome
- Smith-Lemli-Opitz Screen,Plas.
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.
Test sent to Mayo Medical Laboratories.