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Description:This protocol allows for the determination of the total plasma homocysteine. Plasma homocysteine is elevated in several inborn errors of metabolism. These include homocystinuria (cystathionine-b-synthase deficiency) and disorders of vitamin B12 metabolism (cblC, cblD, cblF). Increased plasma homocysteine is also a risk factor in premature vascular disease. The measurement of total plasma homocysteine is useful in the diagnosis and management of these individuals. Homocysteine exists in plasma almost exclusively bound to protein. In order to determine the homocysteine content it is necessary to reduce the protein-homocysteine disulfide bonds prior to analysis. The concentration of the Homocysteine is quantified using high pressure liquid chromatography and tandem mass spectrometry. Specimen Requirements:Plasma: 1-2 ml of blood drawn in a heparin containing tube (green top) and separated as soon as possible. Store frozen. Specimens may be maintained frozen for no more than 7 days prior to processing. Normal Range:Plasma: 4-14 micromoles/liter Turnaround Time:8 days CPT Codes and Prices:83789x2 Shipping InformationForms:Test Codes:4140 |