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25572 Sterols, Plasma (STER)

Sterols, Plasma (STER)
Test Code: STERSO
Synonyms/Keywords
Campesterol
Desmosterol
Desmosterolosis
Lathosterol
Phytosterolemia
Phytosterols
Sitosterol
Sitosterolemia
Tendinous Xanthomatosis
MEND
CDPX2
SC4MOL
Cholestanol
Dimethylsterol
Methylsterol
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 [CDPX2], male EBP disorder with neurologic defects [MEND]).

Multiple analytes including but not limited to 7-dehydrocholesterol (7-DHC), 8-dehydrocholesterol (8-DHC), desmosterol, lathosterol, campesterol, sitosterol, and cholestanol are included in this test. 

Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
No ​Plasma ​Sodium Heparin Green Top Tube (GTT) ​EDTA Lavender Top Tube (LTT) ​0.5 mL ​0.1 mL
Collection Processing Instructions
Spin down and store/ship in a plastic vial. Send plasma frozen.
Specimen Stability Information
Specimen Type Temperature Time
​Plasma ​ ​Frozen (preferred) ​92 days
​Refrigerated ​28 days
​Ambient​14 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.

Desmosterol may be elevated in individuals on medications containing amiodarone.(1)

7-Dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) may be mildly elevated in individuals on certain antidepressant and/or antipsychotic medications such as aripiprazole and trazodone.(2)

Patients with primary dyslipidemias may also have altered cholesterol metabolism and mild elevations of sterols.(3)

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories Tuesday and Friday ​3 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.

Desmosterolosis (desmosterol reductase deficiency) is a very rare disorder of cholesterol biosynthesis with a clinical phenotype similar to that of Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol reductase deficiency). It is caused by variants in DHCR24 (3-beta-hydroxysterol delta-24-reductase). To date, less than 20 cases of desmosterolosis have been described. Its biochemical marker is the marked elevation of desmosterol in plasma, tissue, and cultured cells.

Another very rare disorder of cholesterol biosynthesis is lathosterolosis caused by variants in SC5DL (sterol 3-beta-hydroxysteroid-delta-5-desaturase). Less than 20 patients have been described to date, but the phenotype appears to be characterized by dysmorphic features, multiple congenital anomalies including those of limb and kidney, intellectual disability, and liver disease. Biochemical abnormalities include elevated lathosterol and transaminases, hyperbilirubinemia, and absent 7-dehydrocholesterol.

Sitosterolemia is a rare autosomal recessive disorder caused by variants 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.

Cerebrotendinous xanthomatosis (CTX), also known as 27-hydroxylase deficiency, is caused by variants in the CYP27A1 gene. CTX is an autosomal recessive sterol storage disease resulting in the accumulation of cholestanol and cholesterol in most tissues and markedly increased levels of cholestanol in serum. Additionally the ketosterol bile acid precursors (7-alpha-hydroxy-4-cholesten-3-one [7a-C4] and 7-alpha,12-alpha–dihydroxycholest-4-en-3-one [7a12aC4]) are elevated in multiple tissues throughout the body and can be measured in blood or plasma (see CTXBS / Cerebrotendinous Xanthomatosis, Blood Spot; CTXWB / Cerebrotendinous Xanthomatosis, Blood; or CTXP / Cerebrotendinous Xanthomatosis, Plasma).

Clinical symptoms, which are variable, develop gradually and can include early chronic diarrhea, followed by bilateral cataracts, tuberous and tendon xanthomas, early atherosclerosis, and progressive neurologic impairment such as ataxia, paraparesis, cerebellar ataxia, and dementia. CTX should be suspected in patients with tendon xanthomas and normal or elevated serum cholesterol, and considered in cases of unexplained juvenile cataracts

X-linked chondrodysplasia punctata 2 (CDPX2) and MEND (male EBP disorder with neurologic defects) are caused by defects in EBP, which codes for emopamil binding protein, an important enzyme in the final steps of the sterol biosynthesis pathway. CDPX2 is a typically male-lethal X-linked dominant skeletal dysplasia with accompanying skin, hair, nail, and eye abnormalities (ichthyosis in the newborn, scarring alopecia, cataracts). The phenotype in affected females is variable ranging from severe skeletal and internal anomalies leading to fetal demise or stillbirth to milder short stature or even asymptomatic carriers. 

MEND syndrome, caused by non-mosaic partial loss of function variants in EBP, affects primarily males. It is a neurologic phenotype characterized by moderate-to-severe developmental delay and central nervous system malformations, in particular Dandy-Walker malformation, agenesis of the corpus callosum, and hydrocephalus. Many patients have dysmorphic features that overlap with Smith-Lemli-Opitz syndrome (2-3 toe syndactyly, postaxial polydactyly, and urogenital anomalies). Females are rarely affected.

Biochemical abnormalities for CDXP2 and MEND include elevated 8(9)-cholestenol and 8-dehydrocholesterol.

Sterol C4 methyl oxidase deficiency (SC4MOL) is an autosomal recessive inborn error of cholesterol metabolism characterized by microcephaly, congenital cataracts, and psoriasiform dermatitis. Other features include immune dysregulation, joint pain, short stature and intellectual disability. Biochemical abnormalities include increased plasma 4,4'-dimethyl and 4alpha-monomethylsterols such as dihydro T-MAS (4,4'-dimethyl-5alpha-cholesta-8(9)-en-3beta-ol), and decreased total, low-density lipoprotein, and high-density lipoprotein cholesterol.

Reference Range Information

7-DEHYDROCHOLESTEROL

< or = 2.0 mg/L

8-DEHYDROCHOLESTEROL

< or = 0.3 mg/L

8(9)-CHOLESTENOL

< or = 5.0 mg/L

CAMPESTEROL

< or = 8.0 mg/L

CHOLESTANOL

< or = 6.0 mg/L

DESMOSTEROL

< or = 2.5 mg/L

DIHYDRO T-MAS

< or = 0.3 mg/L

LATHOSTEROL

< or = 6.0 mg/L

SITOSTEROL

< or = 15.0 mg/L

SQUALENE

< or = 1.0 mg/L

STIGMASTEROL

< or = 0.5 mg/L

Interpretation

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
MEND
CDPX2
SC4MOL
Cholestanol
Dimethylsterol
Methylsterol
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)
No ​Plasma ​Sodium Heparin Green Top Tube (GTT) ​EDTA Lavender Top Tube (LTT) ​0.5 mL ​0.1 mL
Collection Processing
Spin down and store/ship in a plastic vial. Send plasma frozen.
Specimen Stability Information
Specimen Type Temperature Time
​Plasma ​ ​Frozen (preferred) ​92 days
​Refrigerated ​28 days
​Ambient​14 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.

Desmosterol may be elevated in individuals on medications containing amiodarone.(1)

7-Dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) may be mildly elevated in individuals on certain antidepressant and/or antipsychotic medications such as aripiprazole and trazodone.(2)

Patients with primary dyslipidemias may also have altered cholesterol metabolism and mild elevations of sterols.(3)

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 [CDPX2], male EBP disorder with neurologic defects [MEND]).

Multiple analytes including but not limited to 7-dehydrocholesterol (7-DHC), 8-dehydrocholesterol (8-DHC), desmosterol, lathosterol, campesterol, sitosterol, and cholestanol are included in this test. 

Reference Range Information

7-DEHYDROCHOLESTEROL

< or = 2.0 mg/L

8-DEHYDROCHOLESTEROL

< or = 0.3 mg/L

8(9)-CHOLESTENOL

< or = 5.0 mg/L

CAMPESTEROL

< or = 8.0 mg/L

CHOLESTANOL

< or = 6.0 mg/L

DESMOSTEROL

< or = 2.5 mg/L

DIHYDRO T-MAS

< or = 0.3 mg/L

LATHOSTEROL

< or = 6.0 mg/L

SITOSTEROL

< or = 15.0 mg/L

SQUALENE

< or = 1.0 mg/L

STIGMASTEROL

< or = 0.5 mg/L

Interpretation

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 Clinic Laboratories Tuesday and Friday ​3 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.