Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: POX
Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens
Aiding in the assessment of peroxisomal function
Highlights
This test analyzes very long-chain fatty acids as well as pristanic and phytanic acid to aid in diagnosis of peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy (X-ALD), and Refsum disease.
This test is also appropriate for follow-up of an abnormal newborn screen for X-ALD.
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.
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
For more information, see Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids in Special Instructions.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
Adrenomyeloneuropathy
C22-C26, Fatty Acid Profile, Peroxisomal
Cerebrohepatorenal Syndrome
Long-Chain Fatty Acids (LCFA)
Peroxisomal, Fatty Acid Profile
Phytanic Acid
Phytanic Acid Oxidase Deficiency
Pristanic Acid
Refsum Disease
Very Long Chain Fatty Acids (VLCFA)
X-ALD (X-Linked Adrenoleukodystrophy)
X-Linked Adrenoleukodystrophy (X-ALD)
Zellweger Syndrome
ZSD