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Fatty Acids, Very Long Chain , Saturated plus Phytanic acid
|Method||Capillary gas chromatography / massspectroscopy of pentafluorobenzyl bromide fatty acid esters|
|Patient Preparation||An 8 hour fast before specimen collection is required.|
|Container type||Lavender top|
|Amount to Collect||6 mL blood|
|Sample type||EDTA plasma|
|Preferred volume||3 mL plasma|
|Min. Volume||1 mL plasma|
|Processing notes||Separate and freeze plasma at -20C until sent at room temperature by Federal Express for next day delivery.
Ship to: Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, 707 N. Broadway, rm 421, Baltimore, MD 21205, (888)554-2080, fax (410)502-8279
|Synonyms||Long chain fatty acids; VLC-FA; phytanic acid; Refsum's disease; Peroxisomal disease|
|Turn around times||2 weeks|
|Additional information||This test is restricted to the Neurology/Pediatric Neurology Services.
Includes Phytanic and Pristanic and Erucic Acid.
For the diagnosis of most peroxisomal disorders of lipid oxidation, including X-linked or neonatal adrenoleukodystrophy, "infantile" and "adult" Refsum's disease, Zellweger syndrome and rhizomelic chondrodysplasia punctata.
Erucic acid is the active ingredient of Lorenzo's Oil, used in the treatment of X-linked adrenoleukodystrophy. In the presence of a plasma level of erucicacid > 5 µg/mL, the assay for very long chain fatty acids may give false-negative results. As phytanic acid comes from the diet, levels in the newborn period may not be diagnostic. Pristanic acid levels aid in the differential diagnosis of these disorders.
|Last Updated||10/2/2010 11:51:51 AM|