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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
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.
Method Name
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
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. Spin down within 45 minutes of draw.
Additional Information:
1. Patient's age and gender is required.
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 |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Special Instructions
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 |
Forms
If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.