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Order Code STER Sterols, Plasma

Reporting Name

Sterols, P

Useful For

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome, and X-linked chondrodysplasia punctata 2

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


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

Collection Instructions:

1. Centrifuge specimen and aliquot plasma into plastic vial.

2. Send plasma frozen.


Specimen Minimum Volume

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

 

8(9)-CHOLESTENOL

≤5.0 mg/L

 

CAMPESTEROL

≤8.0 mg/L

 

CHOLESTANOL

≤6.0 mg/L

 

DESMOSTEROL

≤2.5 mg/L

 

DIHYDRO T-MAS

≤0.3 mg/L

 

LATHOSTEROL

≤6.0 mg/L

 

SITOSTEROL

≤15.0 mg/L

 

SQUALENE

≤1.0 mg/L

 

STIGMASTEROL

≤0.5 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 analyzed using selected ion-monitoring electron impact gas chromatography mass spectrometry to quantitate 7-dehydrocholesterol, 8-dehydrocholesterol, squalene, 8(9)-cholestenol, cholestanol, desmosterol, lathosterol, DiHydro T-MAS (testis meiosis activating sterol), campesterol, stigmasterol, and sitosterol.(Unpublished Mayo method)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.