Methodology
Gas Chromatography-Mass Spectrophotometry (GC/MS)
Synonyms
7-Dehydrocholesterol Reductase Deficiency; 8-Dehydrocholesterol; RSH Syndrome; Smith Lemli Opitz (SLO)
Specimen Type
Plasma
Performing Lab
Mayo Medical Lab
Epic ID
Other Reference Test
Lab Test Days
Varies; Batched 1x per week
Standard TAT
5-11 Days
Collection Information
Specimen Required
1-2 mL Blood
Container Type
Dark Green (Sodium Heparin)
Collection Instructions
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.
Processing Information - Lab Use Only
Transport Temperature
Refrigerate-OK/Frozen-OK
Specimen Stability
Room Temp: Unacceptable; Refrigerated: 7 Days; Frozen: 90 Days
Test Volume Required
1 mL Plasma
Minimum Test Volume
0.2 mL Plasma
Processing Instructions
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.
CPT Codes
82542
Revised
04-24-16
Initials
SL