Phytanic Acid, Plasma

OHSU Service Code:

067-6335

CPT Codes:

82541

Lab Section:

Biochemical Genetics

Specimen
Requirements:

1-3 mL blood, LAVENDER top tube.
Refrigerate and deliver to laboratory within 4 hr or separate plasma, freeze and transport frozen. Heparinized blood and serum also ok if treated as above. For requisition slips.

Pediatric Specimen
Requirements:

1 mL blood in a 3 mL LAVENDER top tube.

Comments:

Indication: For diagnosis of Refsum disease, useful but not definitive for diagnosis of Zellweger syndrome and other peroxisome assembly disorders; very long chair fatty acids, plasma should be ordered to rule out these disorders. If both phytanic and very long chain fatty acids are to be done, one need only draw a single 1-3 mL blood specimen.