Investigation of possible desmosterolosis (desmosterol reductase deficiency) and sitosterolemia
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Gas Chromatography-Mass Spectrometry (GC-MS)/Gas Chromatography-Flame Ionization Detection (GC-FID)
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name