Test Code POX Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Performing Laboratory
Mayo Clinic Laboratories in RochesterReporting Name
Fatty Acid Profile, Peroxisomal, SSpecimen 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.
Reject Due To
Gross hemolysis | OK |
Gross lipemia | Reject |
Gross icterus | OK |
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Serum | Frozen (preferred) | 92 days | |
Refrigerated | 15 days |
Specimen Minimum Volume
0.15 mL
Special Instructions
Day(s) Performed
Monday through Friday
Specimen Retention Time
1 monthReport Available
3 to 5 daysReference 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
Useful 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
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
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
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.