Test Catalog

Test ID: POXP    
Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease

 

An aid in the assessment of peroxisomal function

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Highlights

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.

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.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Fatty Acid Profile, Peroxisomal,P

Aliases Lists additional common names for a test, as an aid in searching

Adrenoleukodystrophy (ALD)
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