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Test Code Sterols Sterols, Plasma

Reporting Name

Sterols, P

Useful For

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia


Necessary Information


 



Specimen Required


Collection Container/Tube:

Preferred: Green top (sodium 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.


Seattle Children's Hospital Note:

Collect 2.0 mL whole blood in a  Dark Green/Sodium Heparin tube.

Specimen Type

Plasma

Specimen Minimum Volume

0.2 mL

Specimen Stability Information

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

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 8 a.m.

Seattle Children's Hospital Note:

TAT: 5 - 11 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS)

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gas chromatography-mass spectrometry (GC-MS) to quantitate desmosterol, lathosterol, campesterol, and sitosterol.(Unpublished Mayo method)

Reference Values

DESMOSTEROL

0.0-2.0 mg/L

 

LATHOSTEROL

0.0-3.0 mg/L

 

CAMPESTEROL

0.0-7.0 mg/L

 

SITOSTEROL

0.0-5.0 mg/L

 

CHOLESTANOL

0.0-5.0 mg/L

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

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
STER Sterols, P 75858-1

 

Result ID Test Result Name Result LOINC Value
50499 Desmosterol 75739-3
50500 Lathosterol 75740-1
50501 Campesterol 75738-5
50502 Sitosterol 75741-9
113381 Cholestanol 2082-6
29942 Interpretation 59462-2
29944 Reviewed By 18771-6

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

Mild OK; Gross OK

Other

NA

Forms

1. 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.

2. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)