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HelpTest ID STER Sterols, Plasma
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
Highlights
This is a screening test for disorders of cholesterol biosynthesis including desmosterolosis, lathosterolosis, cerebrotendinous xanthomatosis, sitosterolemia, sterol C4 methyl oxidase deficiency, and EBP gene disorders (X-linked dominant chondrodysplasia punctata type 2 and MEND [male EBP disorder with neurologic defects] syndrome).
Multiple analytes including but not limited to 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol, campesterol, sitosterol, and cholestanol are included in this test.
Special Instructions
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Reporting Name
Sterols, PSpecimen Type
PlasmaNecessary 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 |
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
Performing Laboratory
Mayo Clinic Laboratories in Rochester
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 daysNY State Approved
YesForms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.