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Test 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, P

Specimen Type

Plasma


Necessary 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

Yes

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.