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# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Sterols, Plasma (STER)
Test Code: STERSO
Synonyms/Keywords
Campesterol, Desmosterol, Desmosterolosis, Lathosterol, Phytosterolemia, Phytosterols, Sitosterol, Sitosterolemia, Tendinous Xanthomatosis
Test Components
Testing includes desmosterol, lathosterol, campesterol, cholestanol and sitosterol for the investigation of desmosterolosis and sitosterolemia.
Useful For
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
​12 hours or more (infants just before next feeding) ​Plasma ​Sodium Heparin Green Top Tube (GTT) ​EDTA Lavender Top Tube (LTT) ​0.5 mL ​0.2 mL
Collection Processing Instructions
Spin down within 45 minutes of draw and store/ship in a plastic vial.  Send plasma frozen.
Specimen Stability Information
Specimen Type Temperature Time
​Plasma ​ ​Frozen (preferred) ​90 days
​Refrigerated ​90 days
Interference
Reference ranges were derived using fasting specimens from healthy individuals. Sitosterol and campesterol values may be mildly elevated in individuals whose diets include foods with high concentrations of plant sterols, such as some vegetable oils and infant formulas.
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories Thursday ​2 days ​Gas Chromatography-Mass Spectrometry (GC-MS)
Reference Lab
Test Information

Cholesterol plays an essential role in many cellular and developmental processes. In addition to its role as a membrane lipid, it is the precursor to numerous molecules that play an important role in cell growth and differentiation, protein glycosylation, and signaling pathways. The biosynthesis of cholesterol and its subsequent conversion to other essential compounds is complex, involving a number of intermediates and enzymes. Disorders that result from a deficiency of these enzymes lead to an accumulation of specific intermediates and inhibit the formation of important biomolecules. Clinical findings common to cholesterol biosynthesis disorders include congenital skeletal malformations, dysmorphic facial features, psychomotor retardation, and failure to thrive.

The clinical phenotype of desmosterolosis (desmosterol reductase deficiency) is similar to Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol reductase deficiency) and typically involves the central nervous system (CNS). Its biochemical marker is the elevation of desmosterol in plasma, tissue, and cultured cells.

Sitosterolemia is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette (ABC) transporter genes, ABCG5 and ABCG8, which abnormally enhance the absorption of plant sterols and cholesterol from the intestines. Patients often present with hematologic abnormalities and tendon and tuberous xanthomas as well as premature coronary artery disease. A biochemical diagnosis of sitosterolemia is made by documenting elevations of the plant sterols sitosterol and campesterol in plasma or serum.

Reference Range Information

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

Interpretation

​Patients with sitosterolemia typically have campesterol values >40 mg/L and sitosterol values >80 mg/L.

A quantitative report of the patient's sterol profile and a Biochemical Genetics consultant's interpretation is provided for each specimen.

Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82542
Synonyms/Keywords
Campesterol, Desmosterol, Desmosterolosis, Lathosterol, Phytosterolemia, Phytosterols, Sitosterol, Sitosterolemia, Tendinous Xanthomatosis
Test Components
Testing includes desmosterol, lathosterol, campesterol, cholestanol and sitosterol for the investigation of desmosterolosis and sitosterolemia.
Ordering Applications
Ordering Application Description
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
​12 hours or more (infants just before next feeding) ​Plasma ​Sodium Heparin Green Top Tube (GTT) ​EDTA Lavender Top Tube (LTT) ​0.5 mL ​0.2 mL
Collection Processing Instructions
Spin down within 45 minutes of draw and store/ship in a plastic vial.  Send plasma frozen.
Specimen Stability Information
Specimen Type Temperature Time
​Plasma ​ ​Frozen (preferred) ​90 days
​Refrigerated ​90 days
Interference
Reference ranges were derived using fasting specimens from healthy individuals. Sitosterol and campesterol values may be mildly elevated in individuals whose diets include foods with high concentrations of plant sterols, such as some vegetable oils and infant formulas.
Useful For
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia.
Test Information

Cholesterol plays an essential role in many cellular and developmental processes. In addition to its role as a membrane lipid, it is the precursor to numerous molecules that play an important role in cell growth and differentiation, protein glycosylation, and signaling pathways. The biosynthesis of cholesterol and its subsequent conversion to other essential compounds is complex, involving a number of intermediates and enzymes. Disorders that result from a deficiency of these enzymes lead to an accumulation of specific intermediates and inhibit the formation of important biomolecules. Clinical findings common to cholesterol biosynthesis disorders include congenital skeletal malformations, dysmorphic facial features, psychomotor retardation, and failure to thrive.

The clinical phenotype of desmosterolosis (desmosterol reductase deficiency) is similar to Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol reductase deficiency) and typically involves the central nervous system (CNS). Its biochemical marker is the elevation of desmosterol in plasma, tissue, and cultured cells.

Sitosterolemia is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette (ABC) transporter genes, ABCG5 and ABCG8, which abnormally enhance the absorption of plant sterols and cholesterol from the intestines. Patients often present with hematologic abnormalities and tendon and tuberous xanthomas as well as premature coronary artery disease. A biochemical diagnosis of sitosterolemia is made by documenting elevations of the plant sterols sitosterol and campesterol in plasma or serum.

Reference Range Information

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

Interpretation

​Patients with sitosterolemia typically have campesterol values >40 mg/L and sitosterol values >80 mg/L.

A quantitative report of the patient's sterol profile and a Biochemical Genetics consultant's interpretation is provided for each specimen.

For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories Thursday ​2 days ​Gas Chromatography-Mass Spectrometry (GC-MS)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82542
For most current information refer to the Marshfield Laboratory online reference manual.