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Test ID: STER    
Sterols, Plasma

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Useful For Suggests clinical disorders or settings where the test may be helpful

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, and sitosterolemia

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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 A short description of the method used to perform the test

Gas Chromatography-Mass Spectrometry (GC-MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Sterols, P

Aliases Lists additional common names for a test, as an aid in searching

Campesterol
Desmosterol
Desmosterolosis
Lathosterol
Phytosterolemia
Phytosterols
Sitosterol
Sitosterolemia
Tendinous Xanthomatosis