Gas Chromatography/Mass Spectrometry (GC/MS)
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
7-Dehydrocholesterol: < or = 2.0 mg/L
8-Dehydrocholesterol: < or = 0.3 mg/L
4 - 10 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, send to Specimen Processing frozen
Test sent to Mayo Clinic Laboratories.