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HelpTest Code STER Sterols, Plasma
Reporting Name
Sterols, PUseful 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
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
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.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 |
Interpretation
A quantitative report of the patient's sterol profile and a Biochemical Genetics consultant's interpretation is provided for each specimen.
Clinical Reference
1. Simonen P, Lehtonen J, Lampi AM, et al. Desmosterol accumulation in users of amiodarone. J Intern Med. 2018;283(1):93-101. doi:10.1111/joim.12682
2. Hall P, Michels V, Gavrilov D, et al. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2013;110(1-2):176-178
3. Lupatelli G, De Vuono S, Mannarino E. Patterns of cholesterol metabolism: Pathophysiological and therapeutic implications for dyslipidemias and the metabolic syndrome. Nutr Metab Cardiovasc Dis. 2011;21(9):620-627. doi:10.1016/j.numecd.2011.04.010
4. Zolotushko J, Flusser H, Markus B, et al. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. Eur J Hum Genet. 2011;19(9):942-946. doi:10.1038/ejhg.2011.74
5. Bjorkhem I, Boberg K, Leitersdorf E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed November 02, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225540623
6. Lu K, Lee MH, Hazard S, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001;69(2):278-290
7. Pilo de la Fuente B, Sobrido MJ, Giros M, et al. Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis. Neurologia. 2011;26(7):397-404
8. Herman GE, Kratz L. Disorders of sterol synthesis: beyond Smith-Lemli-Optiz syndrome. Am J Med Genet C Semin Med Genet. 2012;106C(4):301-321
9. Kumble S, Savarirayan R. Chondrodysplasia punctata 2, X-linked. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds: GeneReviews [Internet]. University of Washington, Seattle; 2011. Updated January 09, 2020. Accessed November 02, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK55062/
10. Parraga I, Lopez-Torres J, Andres F, et al. Effect of plant sterols on the lipid profile of patients with hypercholesterolaemia. Randomised, experimental study. BMC Complement Altern Med. 2011;11:73. doi:10.1186/1472-6882-11-73
Report Available
3 to 7 daysMethod 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.