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Test ID SLO Smith-Lemli-Opitz Screen, Plasma

Useful For

Diagnosing Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency) and fetal fentanyl syndrome

Genetics Test Information

Smith-Lemli-Opitz syndrome (SLO) is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase.

 

Clinical variability even within families has been noted and severity of SLO ranges from severe to mild.

 

Elevated plasma concentrations of 7-DHC and 8-dehydrocholesterol are highly suggestive of a biochemical diagnosis of SLO.

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Reporting Name

Smith-Lemli-Opitz Scrn, P

Specimen Type

Plasma


Necessary Information


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.



Specimen Required


Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Green top (sodium or lithium heparin)

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

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL plasma

Collection Instructions:

1. Centrifuge and aliquot plasma into plastic vial.

2. Send plasma frozen.


Specimen Minimum Volume

Plasma: 0.1 mL

Specimen Stability Information

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

Reference Values

7-dehydrocholesterol

≤2.0 mg/L

 

8-dehydrocholesterol

≤0.3 mg/L

Day(s) Performed

Tuesday, Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

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

Test Classification

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

Report Available

3 to 7 days

NY State Approved

Yes

Forms

1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.