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Investigation of possible desmosterolosis (desmosterol reductase deficiency) and sitosterolemia
Testing includes desmosterol, lathosterol, campesterol, and sitosterol for the investigation of desmosterolosis and sitosterolemia.
Desmosterolosis is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme desmosterol reductase deficiency.
Sitosterolemia is a rare autosomal recessive disorder caused by mutations 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.
Gas Chromatography-Mass Spectrometry (GC-MS)/Gas Chromatography-Flame Ionization Detection (GC-FID)