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HelpTest Code POX Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Reporting Name
Fatty Acid Profile, Peroxisomal, SUseful For
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
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumNecessary Information
1. Patient's age and sex is required.
2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.Specimen Required
Patient Preparation: Fasting 12 hours or more. (Collect specimens from infants and small children just before next feeding)
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1.5 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Specimen Minimum Volume
0.15 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Frozen (preferred) | 92 days | |
| Refrigerated | 15 days |
Reference Values
C22:0
≤96.3 nmol/mL
C24:0
≤91.4 nmol/mL
C26:0
≤1.30 nmol/mL
C24:0/C22:0 RATIO
≤1.39
C26:0/C22:0 RATIO
≤0.023
PRISTANIC ACID
0-4 months: ≤0.60 nmol/mL
5-8 months: ≤0.84 nmol/mL
9-12 months: ≤0.77 nmol/mL
13-23 months: ≤1.47 nmol/mL
≥24 months: ≤2.98 nmol/mL
PHYTANIC ACID
0-4 months: ≤5.28 nmol/mL
5-8 months: ≤5.70 nmol/mL
9-12 months: ≤4.40 nmol/mL
13-23 months: ≤8.62 nmol/mL
≥24 months: ≤9.88 nmol/mL
PRISTANIC/PHYTANIC ACID RATIO
0-4 months: ≤0.35
5-8 months: ≤0.28
9-12 months: ≤0.23
13-23 months: ≤0.24
≥24 months: ≤0.39
Day(s) Performed
Monday through Friday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82726
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| POX | Fatty Acid Profile, Peroxisomal, S | 43677-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 81369 | C22:0 | 30194-5 |
| 7143 | C24:0 | 30195-2 |
| 7137 | C26:0 | 30197-8 |
| 7138 | C24:0/C22:0 | 30196-0 |
| 7139 | C26:0/C22:0 | 30198-6 |
| 7140 | Pristanic Acid | 22761-1 |
| 7141 | Phytanic Acid | 22671-2 |
| 7142 | Pristanic/Phytanic | 30550-8 |
| 7144 | Comment | 48767-8 |
Interpretation
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. When no significant abnormalities are detected, a simple descriptive interpretation is provided.
A profile of elevated phytanic acid, low-normal pristanic acid, and normal very long-chain fatty acids is suggestive of Refsum disease (phytanic acid oxidase deficiency); however, serum phytanic acid concentration may also be increased in disorders of peroxisomal biogenesis and should be considered in the differential diagnosis of peroxisomal disorders.
If results are suggestive of hemizygosity for X-linked adrenoleukodystrophy, the calculated value of a discriminating function that more accurately segregates hemizygous individuals from normal controls is included in the report.
Positive test results could be due to a genetic or nongenetic condition. Additional confirmatory testing would be required to differentiate between these causes.
Clinical Reference
1. Moser AB, Kreiter N, Bezman L, et al. Plasma very long chain fatty acid assay in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol. 1999;45:100-110
2. Turk BR, Theda C, Fatemi A, Moser AB. X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies. Int J Dev Neurosci. 2020;80(1):52-72. doi:10.1002/jdn.10003
3. Waterham HR, Ferdinandusse S, Wanders RJA. Human disorders of peroxisome metabolism and biogenesis. Biochimica et Biophysica Acta. 2016;1863(5):922-933. doi:10.1016/j.bbamcr.2015.11.015
Report Available
3 to 5 daysMethod Name
Gas Chromatography Mass Spectrometry (GC-MS)
Testing Algorithm
For more information see:
-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
-Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
Special Instructions
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.