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
Tuesday and Friday
Standard TAT
3-7 Days
Collection Information
Specimen Required
1 mL Blood
Container Type
Dark Green (Sodium Heparin)
Collection Instructions
Plasma collected in an EDTA (lavender-top), Lithium Heparin (dark green-top) or an ACD (yellow-top) tube solution A/B are also acceptable. Completed Mayo Biochemical Genetics Patient Info form is recommended submitted with specimen.
Processing Information - Lab Use Only
Transport Temperature
Room Temp-OK/Refrigerated-OK/Frozen-OK
Specimen Stability
Room Temp: 14 Days; Refrigerated: 28 Days; Frozen: 92 Days (preferred)
Test Volume Required
0.5 mL Plasma
Minimum Test Volume
0.1 mL Plasma
Processing Instructions
Order test in MayoLink and send with Mayo courier Monday-Friday. Completed Mayo Biochemical Genetics Patient Info form is recommended submitted with specimen.
Included Tests
7-dehydrocholesterol and 8-dehydrocholesterol
CPT Codes
82542 (not genetic)
Revised
5/9/26
Initials
IM