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Test ID POX Fatty Acid Profile, Peroxisomal (C22-C26), Serum

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

Highlights

This test analyzes very long-chain fatty acids as well as pristanic and phytanic acid to aid in diagnosis of peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy (X-ALD), and Refsum disease.

 

This test is also appropriate for follow-up of an abnormal newborn screen for X-ALD.

 

Reports include concentrations of C22:0, C24:0, C26:0 species, phytanic and pristanic acid, and calculated C24:0/C22:0, C26:0/C22:0 and phytanic acid/pristanic acid ratios.

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Reporting Name

Fatty Acid Profile, Peroxisomal, S

Specimen Type

Serum


Necessary 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.


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) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

Report Available

3 to 5 days

NY State Approved

Yes

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.