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Test ID BLOD0453 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 Medical 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/gel tubes), yellow top (ACD A) or yellow top (ACD B)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions: Centrifuge specimen and aliquot plasma. Send plasma frozen.

Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen (preferred) 90 days
  Refrigerated  90 days

Reference Values

Negative (reported as positive or negative)

Quantitative results are provided when positive.

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 8 a.m.

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 U.S. Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
SLO Smith-Lemli-Opitz Scrn, P 33275-9


Result ID Test Result Name Result LOINC Value
81595 Smith-Lemli-Opitz Scrn, P 33275-9
29972 Interpretation 59462-2
29974 Reviewed By 18771-6

Analytic Time

3 days

Reject Due To


Mild OK; Gross OK


Mild OK; Gross OK


Mild OK; Gross OK



Method Name

Gas Chromatography-Mass Spectrometry (GC-MS)


New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.