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 and MEND [male EBP disorder with neurologic defects] syndrome).
Immediatley following collection, mix sample by gently inverting 5 times
Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting
Frozen (preferred) - 92 days
Ambient - 14 days
Refrigerated - 28 days
Gross hemolysis, lipemia or icterus
Gas Chromatography Mass Spectrometry (GC-MS)
See report