Fatty Acid Profile, Peroxisomal (C22-C26)

Synonyms

• CEREBROHEPATORENAL SYNDROME
• FATTY ACIDS PROFILE, PEROXISOMAL
• LAB988
• LONG-CHAIN FATTY ACIDS (LCFA)
• PEROXISOMAL FATTY ACIDS (C22-C26)
• VERY LONG CHAIN FATTY ACIDS (VLCFA)

Cerner Name

Peroxisomal Fatty Acids (C22-C26)

Clinical Info

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
This test analyzes very long-chain fatty acids (VLCFA) as well as pristanic and phytanic acid to aid in diagnosis of peroxisomal biogenesis disorders (PBD),
 X-linked adrenoleukodystrophy (X-ALD), and Refsum disease.
Reports include concentrations of C22:0, C24:0, C26:0 species, phytanic acid and pristanic acid, and calculated C24:0/C22:0, C26:0/C22:0, and 
phytanic acid/pristanic acid ratios.
This test is also appropriate for follow-up of an abnormal newborn screen for X-ALD.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

0.5 mL (0.2 mL min)

Container

Red Top Tube or Gold Top Tube

Collection Instructions

Container/Tube: Red Top Tube or Gold Top Tube
Specimen : 0.5 mL (0.2 mL min)
Transport Temperature: Refrigerated
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.

Transport Instructions

Refrigerated

Specimen Stability

15 Days Refrigerated
92 Days Frozen

Methodology

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

Days Performed

Monday through Friday; 7 a.m.

Performing Laboratory

Mayo Medical Laboratories

CPT

82726
LOINC Code: 43677-4

PDM

5902780

Only Orderable at Locations:

Orderable Everywhere

Results

Result Interpretation

Forms