Gas Chromatography-Mass Spectrophotometry (GC/MS)
7-Dehydrocholesterol Reductase Deficiency; 8-Dehydrocholesterol; RSH Syndrome; Smith Lemli Opitz (SLO)
Mayo Medical Lab
Other Reference Test
Varies; Batched 1x per week
1-2 mL Blood
Dark Green (Sodium Heparin)
Plasma collected in an EDTA (lavender-top) or lithium heparin (dark green-top) tube is also acceptable. Collect blood from fasting patient 12 hours or more, infants just before next feeding.
Room Temp: Unacceptable; Refrigerated: 7 Days; Frozen: 90 Days
1 mL Plasma
0.2 mL Plasma
Separate plasma within 45 minutes of collection. Order test in Mayo Access and send Mayo manifest with specimen refrigerated or frozen. Mayo courier will pick up Monday-Friday.