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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)
An aid in the assessment of peroxisomal function
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumSpecimen Required
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions:
1. Fasting-overnight (12-14 hours).
2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.
3. Centrifuge and aliquot serum.
Additional Information:
1. Patient's age and gender is required.     Â
2. Include information regarding treatment, family history, and tentative diagnosis.
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) and Time(s) Performed
Monday through Friday; 7 a.m.
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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 |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Method Name
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
Testing Algorithm
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.
Special Instructions
Forms
If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.