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Order Code SLO Smith-Lemli-Opitz Screen, Plasma

Reporting Name

Smith-Lemli-Opitz Scrn, P

Useful For

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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


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

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

7-DEHYDROCHOLESTEROL

≤2.0 mg/L

 

8-DEHYDROCHOLESTEROL

≤0.3 mg/L

Day(s) Performed

Tuesday, Friday

CPT Code Information

82542

Method Description

The plasma specimen is hydrolyzed and then extracted followed by evaporation to dryness under nitrogen. The sterols are derivatized and then analyzed using selected ion-monitoring electron impact gas chromatography mass spectrometry to quantitate 7-dehydrocholesterol and 8-dehydrocholesterol.(Unpublished Mayo method)

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

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.

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.