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Test Code SLO Smith-Lemli-Opitz Screen, Plasma

Reporting Name

Smith-Lemli-Opitz Scrn, P

Useful For

Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type


Specimen Required

Collection Container/Tube:

Preferred: Green top (sodium or lithium heparin)

Acceptable: Lavender top (EDTA), pearl white top (EDTA plasma gel), yellow top (ACD A/ACD B)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions:

1. Centrifuge and aliquot plasma into plastic vial.

2. Send plasma frozen.

Specimen Minimum Volume

0.1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen (preferred) 92 days
  Refrigerated  28 days
  Ambient  14 days

Reference Values


≤2.0 mg/L



≤0.3 mg/L

Day(s) Performed

Tuesday, Friday

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
SLO Smith-Lemli-Opitz Scrn, P 73852-6


Result ID Test Result Name Result LOINC Value
29972 Interpretation 59462-2
610625 7-Dehydrocholesterol 33275-9
610626 8-Dehydrocholesterol 34671-8
29974 Reviewed By 18771-6

Report Available

3 to 7 days

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS)