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Test Code MISC2MAYOPOXP Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Useful For

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

 

An aid in the assessment of peroxisomal function

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Reporting Name

Fatty Acid Profile, Peroxisomal,P

Specimen Type

Plasma

Specimen Minimum Volume

0.15 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen (preferred) 92 days
  Refrigerated  15 days

Reject Due To

Gross hemolysis OK
Gross lipemia Reject
Gross icterus OK

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.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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
POXP Fatty Acid Profile, Peroxisomal,P 43677-4

 

Result ID Test Result Name Result LOINC Value
36641 C22:0 30194-5
36642 C24:0 30195-2
36643 C26:0 30197-8
36644 C24:0/C22:0 30196-0
36645 C26:0/C22:0 30198-6
36646 Pristanic Acid 22761-1
36647 Phytanic Acid 22671-2
36648 Pristanic/Phytanic 30550-8
36649 Interpretation (POXP) 59462-2

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.