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Test Code 8453 Fatty Acid Profile, Peroxisomal (C22-C26), Serum

Additional Codes

Mayo Test ID
POX

Reporting Name

Fatty Acid Profile, Peroxisomal, S

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)

 

An aid in the assessment of peroxisomal function

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Serum


Specimen 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.


Barnes-Jewish Hospital Note:
For non hospital patient, call Barnes-Jewish Hospital Laboratory Customer Service at 314-362-1470 for STAT pick-up.

 

Send original tube on wet ice.


Specimen Minimum Volume

0.15 mL

Specimen Stability Information

Specimen Type Temperature Time
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; 9 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 In Process

 

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

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.

Barnes-Jewish Hospital Additional Information:
For BJH Laboratory Use Only
Laboratory Processing Instructions:
BJH Chemistry will forward to the performing laboratory. Specimen must be received on wet ice.