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Test 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

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

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 Special Container
Plasma Frozen (preferred) 92 days
  Refrigerated  28 days
  Ambient  14 days

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

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

LOINC Code Information

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

 

Result ID Test Result Name Result LOINC Value
29942 Interpretation 59462-2
610622 7-Dehydrocholesterol 33275-9
610623 8-Dehydrocholesterol 34671-8
610620 8(9)-Cholestenol 100424-1
50501 Campesterol 75738-5
113381 Cholestanol 2082-6
50499 Desmosterol 75739-3
610621 DiHydro T-MAS 100425-8
50500 Lathosterol 75740-1
50502 Sitosterol 75741-9
610618 Squalene 100426-6
610619 Stigmasterol 100427-4
29944 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.