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,Friday
Standard TAT
3-7 Days
Collection Information
Specimen Required
1-2 mL Blood
Container Type
Dark Green (Sodium Heparin)
Collection Instructions
Plasma collected in an EDTA (lavender-top), lithium heparin (dark green-top) or yellow top (ACCD solution A or B) tube is also acceptable.
Processing Information - Lab Use Only
Transport Temperature
Frozen
Specimen Stability
Room Temp: 14 days; Refrigerated: 28 Days; Frozen (preferred): 92 Days
Test Volume Required
0.5 mL Plasma
Minimum Test Volume
0.1 mL Plasma
Processing Instructions
Centrifuge and aliquot plasma into plastic vial. Order test in Mayo Access and send Mayo manifest with specimen refrigerated or frozen. Mayo courier will pick up Monday-Friday.
Included Tests
7-dehydrocholesterol, 8-dehydrocholesterol
Comments
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
CPT Codes
82542
Revised
5/9/26
Initials
IM