Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
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Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum)
An aid in the assessment of peroxisomal function
Reports include concentrations of C22:0, C24:0, C26:0 species, phytanic acid and pristanic acid, and calculated C24:0/C22:0, C26:0/C22:0, and phytanic acid/pristanic acid ratios.
This test analyzes very long-chain fatty acids (VLCFA) as well as pristanic and phytanic acid to aid in diagnosis of peroxisomal biogenesis disorders (PBD), X-linked adrenoleukodystrophy (X-ALD), and Refsum disease.
A fasting sample is required for most accurate results.
This test is also appropriate for follow-up of an abnormal newborn screen for X-ALD.
See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy in Special Instructions.
For more information, see Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids in Special Instructions.
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis