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HelpTest ID STER Sterols, Plasma
Useful For
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia
Genetics Test Information
Desmosterolosis and lathosterolosis are multiple congenital anomaly disorders caused by defective cholesterol biosynthesis due to deficiency of the enzyme desmosterol reductase deficiency and sterol 3-beta-hydroxysteroid-delta-5-desaturase, respectively.
Cerebrotendinous xanthomatosis (CTX), an autosomal recessive disorder caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, is associated with increased levels of cholestanol.
Sitosterolemia is a rare autosomal recessive disorder caused by variants in the ATP-binding cassette (ABC) transporter genes, ABCG5 and ABCG8, which clinically cause hematologic abnormalities, tendon and tuberous xanthomas, and premature coronary artery disease.
Highlights
Testing includes desmosterol, lathosterol, campesterol, cholestanol, and sitosterol for the investigation of disorders of sterol metabolism, including desmosterolosis, cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia.
Method Name
Gas Chromatography-Mass Spectrometry (GC-MS)
Reporting Name
Sterols, PSpecimen Type
PlasmaNecessary 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 into plastic vial. Send plasma frozen.
Specimen Minimum Volume
0.2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen (preferred) | 90 days | |
| Refrigerated | 90 days |
Reference Values
DESMOSTEROL
≤2.0 mg/L
LATHOSTEROL
≤3.0 mg/L
CAMPESTEROL
≤7.0 mg/L
SITOSTEROL
≤5.0 mg/L
CHOLESTANOL
≤5.0 mg/L
Day(s) and Time(s) Performed
Tuesday, Friday; 8 a.m. (not reported on Saturday or Sunday)
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 |
|---|---|---|
| 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 |
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.NY State Approved
YesForms
If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.